A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation

Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and...

Descripción completa

Detalles Bibliográficos
Autores principales: Connell, Patrick S., Jeewa, Aamir, Kearney, Debra L., Tunuguntla, Hari, Denfield, Susan W., Allen, Hugh D., Landstrom, Andrew P.
Formato: Online Artículo Texto
Lenguaje:English
Publicado: John Wiley and Sons Inc. 2018
Materias:
Case Reports
Acceso en línea:https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332775/
https://www.ncbi.nlm.nih.gov/pubmed/30656044
http://dx.doi.org/10.1002/ccr3.1920
_version_ 1783387427076833280
author Connell, Patrick S.
Jeewa, Aamir
Kearney, Debra L.
Tunuguntla, Hari
Denfield, Susan W.
Allen, Hugh D.
Landstrom, Andrew P.
author_facet Connell, Patrick S.
Jeewa, Aamir
Kearney, Debra L.
Tunuguntla, Hari
Denfield, Susan W.
Allen, Hugh D.
Landstrom, Andrew P.
author_sort Connell, Patrick S.
collection PubMed
description Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus.
format Online
Article
Text
id pubmed-6332775
institution National Center for Biotechnology Information
language English
publishDate 2018
publisher John Wiley and Sons Inc.
record_format MEDLINE/PubMed
spelling pubmed-63327752019-01-17 A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation Connell, Patrick S. Jeewa, Aamir Kearney, Debra L. Tunuguntla, Hari Denfield, Susan W. Allen, Hugh D. Landstrom, Andrew P. Clin Case Rep Case Reports Variants of unknown significance in cardiomyopathic disease should be analyzed systematically based on the prevalence of the variant in the population compared to prevalence of disease, evidence that other variants in the gene are pathologic, consistency of prediction software on pathogenicity, and the current clinical consensus. John Wiley and Sons Inc. 2018-12-14 /pmc/articles/PMC6332775/ /pubmed/30656044 http://dx.doi.org/10.1002/ccr3.1920 Text en © 2018 The Authors. Clinical Case Reports published by John Wiley & Sons Ltd. This is an open access article under the terms of the http://creativecommons.org/licenses/by/4.0/ License, which permits use, distribution and reproduction in any medium, provided the original work is properly cited.
spellingShingle Case Reports
Connell, Patrick S.
Jeewa, Aamir
Kearney, Debra L.
Tunuguntla, Hari
Denfield, Susan W.
Allen, Hugh D.
Landstrom, Andrew P.
A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
title A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
title_full A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
title_fullStr A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
title_full_unstemmed A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
title_short A 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
title_sort 14‐year‐old in heart failure with multiple cardiomyopathy variants illustrates a role for signal‐to‐noise analysis in gene test re‐interpretation
topic Case Reports
url https://www.ncbi.nlm.nih.gov/pmc/articles/PMC6332775/
https://www.ncbi.nlm.nih.gov/pubmed/30656044
http://dx.doi.org/10.1002/ccr3.1920
work_keys_str_mv AT connellpatricks a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT jeewaaamir a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT kearneydebral a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT tunuguntlahari a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT denfieldsusanw a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT allenhughd a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT landstromandrewp a14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT connellpatricks 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT jeewaaamir 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT kearneydebral 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT tunuguntlahari 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT denfieldsusanw 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT allenhughd 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation
AT landstromandrewp 14yearoldinheartfailurewithmultiplecardiomyopathyvariantsillustratesaroleforsignaltonoiseanalysisingenetestreinterpretation

Ejemplares similares