Submissions for variant NM_002471.4(MYH6):c.4986G>A (p.Ala1662=)

gnomAD frequency: 0.00066  dbSNP: rs77416370

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037525	SCV000061183	likely benign	not specified	2012-03-19	criteria provided, single submitter	clinical testing	Ala1662Ala in exon 34 of MYH6: 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 2/7020 European Ame rican chromosomes from a broad population by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu/EVS; dbSNP rs77416370). Ala1662Ala in exon 34 of MYH6 (rs77416370; allele frequency = 2/7020) **
Ambry Genetics	RCV000250876	SCV000318232	benign	Cardiovascular phenotype	2017-02-07	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.
GeneDx	RCV001528230	SCV000534665	benign	not provided	2018-03-16	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000460813	SCV000557885	benign	Hypertrophic cardiomyopathy 14	2024-01-13	criteria provided, single submitter	clinical testing
Molecular Diagnostic Laboratory for Inherited Cardiovascular Disease, Montreal Heart Institute	RCV000037525	SCV000740603	benign	not specified	2016-06-07	criteria provided, single submitter	clinical testing
CHEO Genetics Diagnostic Laboratory, Children's Hospital of Eastern Ontario	RCV000770428	SCV000901871	benign	Cardiomyopathy	2016-08-30	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037525	SCV004038715	benign	not specified	2023-08-20	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV001528230	SCV001739608	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000037525	SCV001917638	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000037525	SCV001930203	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000037525	SCV001951842	benign	not specified		no assertion criteria provided	clinical testing