Submissions for variant NM_003803.4(MYOM1):c.2179A>G (p.Thr727Ala)

gnomAD frequency: 0.00345  dbSNP: rs115382168

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000217351	SCV000269351	benign	not specified	2014-11-24	criteria provided, single submitter	clinical testing	Thr727Ala in exon 15 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 1.1% (42/3852) of African American c hromosomes from a broad population by the NHLBI Exome Sequencing Project (http:/ /evs.gs.washington.edu/EVS; dbSNP rs115382168).
Invitae	RCV000229248	SCV000287993	benign	Hypertrophic cardiomyopathy	2024-01-28	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000620502	SCV000739830	benign	Cardiovascular phenotype	2013-02-28	criteria provided, single submitter	clinical testing	General population or subpopulation frequency is too high to be a pathogenic mutation based on disease/syndrome prevalence and penetrance
PreventionGenetics, part of Exact Sciences	RCV003917877	SCV004734952	benign	MYOM1-related condition	2019-03-26	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).