Submissions for variant NM_002471.4(MYH6):c.4611G>A (p.Val1537=)

gnomAD frequency: 0.00030  dbSNP: rs142983918

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000037511	SCV000061169	likely benign	not specified	2012-04-12	criteria provided, single submitter	clinical testing	Val1537Val in Exon 32 of MYH6: This variant is not expected to have clinical sig nificance because it does not alter an amino acid residue, is not located within the splice consensus sequence. It has been identified in 0.2% (6/3738) of Afric an American chromosomes from a broad population by the NHLBI Exome Sequencing Pr oject (http://evs.gs.washington.edu/EVS; dbSNP rs142983918). Val1537Val in Exon 32 of MYH6 (rs142983918; allele frequency = 0.2%, 6/3738) **
Labcorp Genetics (formerly Invitae), Labcorp	RCV000533203	SCV000648266	likely benign	Hypertrophic cardiomyopathy 14	2024-12-03	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000617217	SCV000740075	likely benign	Cardiovascular phenotype	2016-11-17	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	RCV000770432	SCV000901875	likely benign	Cardiomyopathy	2017-08-21	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000037511	SCV004029426	benign	not specified	2023-07-22	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004534790	SCV004752725	likely benign	MYH6-related disorder	2021-02-01	no assertion criteria provided	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).