Submissions for variant NM_002471.4(MYH6):c.4293G>A (p.Met1431Ile)

gnomAD frequency: 0.00029  dbSNP: rs201016285

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000155802	SCV000205513	benign	not specified	2015-04-02	criteria provided, single submitter	clinical testing	p.Met1431Ile in exon 30 of MYH6: This variant is not expected to have clinical s ignificance because it has been identified in 1.8% (210/11576) of Latino chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs201016285).
Ambry Genetics	RCV000244312	SCV000319078	benign	Cardiovascular phenotype	2018-09-06	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	RCV000155802	SCV000515729	benign	not specified	2017-01-12	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000756392	SCV000557918	benign	Hypertrophic cardiomyopathy 14	2025-02-02	criteria provided, single submitter	clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV003654212	SCV000884191	benign	not provided	2023-04-24	criteria provided, single submitter	clinical testing
Center for Advanced Laboratory Medicine, UC San Diego Health, University of California San Diego	RCV000852693	SCV000995403	benign	Cardiomyopathy	2019-04-01	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004544443	SCV004789241	likely benign	MYH6-related disorder	2019-03-12	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).