Submissions for variant NM_000257.4(MYH7):c.4911C>T (p.Ala1637=)

gnomAD frequency: 0.00001  dbSNP: rs151113658

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000035939	SCV000059590	likely benign	not specified	2012-03-20	criteria provided, single submitter	clinical testing	Ala1637Ala in exon 34 of MYH7: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue and is not located wit hin the splice consensus sequence. It has been identified in 1/3738 African Amer ican chromosomes from a broad population by the NHLBI Exome Sequencing Project ( http://evs.gs.washington.edu/EVS/; dbSNP rs151113658). Ala1637Ala in exon 34 of MYH7 (rs151113658; allele frequency = 1/3738) **
GeneDx	RCV000035939	SCV000513810	benign	not specified	2015-04-16	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.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000035939	SCV000696355	likely benign	not specified	2019-08-29	criteria provided, single submitter	clinical testing
Invitae	RCV000864511	SCV001005321	likely benign	Hypertrophic cardiomyopathy	2023-11-05	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001189929	SCV001357324	likely benign	Cardiomyopathy	2019-03-19	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002345278	SCV002646225	likely benign	Cardiovascular phenotype	2019-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences	RCV003914923	SCV004735340	likely benign	MYH7-related condition	2022-12-27	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).