Submissions for variant NM_000257.4(MYH7):c.4182C>T (p.Ala1394=)

gnomAD frequency: 0.00006  dbSNP: rs765895405

Total submissions: 10

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000168901	SCV000270459	likely benign	not specified	2015-08-13	criteria provided, single submitter	clinical testing	p.Ala1394Ala in exon 31 of MYH7: This variant is not expected to have clinical s ignificance because it does not alter an amino acid residue and is not located w ithin the splice consensus sequence. It has been identified in 11/66390 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org).
Eurofins Ntd Llc (ga)	RCV000724906	SCV000332313	uncertain significance	not provided	2015-06-23	criteria provided, single submitter	clinical testing
Invitae	RCV000629082	SCV000749995	likely benign	Hypertrophic cardiomyopathy	2024-01-01	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV001176807	SCV001340865	likely benign	Cardiomyopathy	2018-11-03	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000168901	SCV001433098	likely benign	not specified	2019-12-19	criteria provided, single submitter	clinical testing
GeneDx	RCV000724906	SCV001844019	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000168901	SCV002064986	likely benign	not specified	2017-11-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002326928	SCV002626983	likely benign	Cardiovascular phenotype	2019-06-28	criteria provided, single submitter	clinical testing	This alteration is classified as likely 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.
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV001176807	SCV004239468	likely benign	Cardiomyopathy	2023-04-04	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003895167	SCV004717732	likely benign	MYH7-related condition	2020-10-02	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).