Submissions for variant NM_000257.4(MYH7):c.4472C>G (p.Ser1491Cys)

gnomAD frequency: 0.00861  dbSNP: rs3729823

Total submissions: 24

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
ClinGen Cardiomyopathy Variant Curation Expert Panel	RCV000758034	SCV000564464	benign	Cardiomyopathy	2016-12-15	reviewed by expert panel	curation	The filtering allele frequency of the c.4472C>G (p.Ser1491Cys) variant in the MYH7 gene is 0.98% (698/66740) of European chromosomes by the Exome Aggregation Consortium (http://exac.broadinstitute.org), which is a high enough frequency to be classified as benign based on thresholds defined by the ClinGen Inherited Cardiomyopathy Expert Panel (BA1; PMID:29300372).
Biesecker Lab/Clinical Genomics Section, National Institutes of Health	RCV000172762	SCV000051574	benign	Hypertrophic cardiomyopathy	2013-06-24	criteria provided, single submitter	research
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035914	SCV000059565	benign	not specified	2016-01-07	criteria provided, single submitter	clinical testing	p.Ser1491Cys in exon 31 of MYH7: This variant is not expected to have clinical s ignificance because it has been identified in 1.1% (698/66740) of European chrom osomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org ; dbSNP rs3729823).
Eurofins Ntd Llc (ga)	RCV000035914	SCV000110307	benign	not specified	2013-03-12	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000035914	SCV000151922	benign	not specified	2014-08-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000035914	SCV000170536	benign	not specified	2012-04-17	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Genomic Diagnostic Laboratory, Division of Genomic Diagnostics, Children's Hospital of Philadelphia	RCV000203136	SCV000257659	benign	Hypertrophic cardiomyopathy 1	2015-04-12	criteria provided, single submitter	clinical testing
Invitae	RCV000172762	SCV000262237	benign	Hypertrophic cardiomyopathy	2024-02-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000035914	SCV000303239	benign	not specified		criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000254102	SCV000317769	benign	Cardiovascular phenotype	2015-07-21	criteria provided, single submitter	clinical testing	This alteration is classified as benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Illumina Laboratory Services, Illumina	RCV000331016	SCV000385954	likely benign	Dilated cardiomyopathy 1S	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000203136	SCV000385955	likely benign	Hypertrophic cardiomyopathy 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000712360	SCV000604364	benign	not provided	2023-11-28	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000712360	SCV000842834	benign	not provided	2018-03-23	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000758034	SCV000902639	benign	Cardiomyopathy	2018-03-05	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852699	SCV000995413	benign	Restrictive cardiomyopathy; Cardiomyopathy; Hypertrophic cardiomyopathy	2018-11-14	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000035914	SCV001433060	likely benign	not specified	2019-07-03	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000712360	SCV002545162	benign	not provided	2024-07-01	criteria provided, single submitter	clinical testing	MYH7: BS1, BS2
Cohesion Phenomics	RCV000172762	SCV003803030	benign	Hypertrophic cardiomyopathy	2022-10-10	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000035914	SCV001742479	benign	not specified		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000712360	SCV001798027	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000035914	SCV001918462	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000035914	SCV001931851	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000035914	SCV001956184	benign	not specified		no assertion criteria provided	clinical testing