ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.3453T>A (p.Asp1151Glu)

gnomAD frequency: 0.00578  dbSNP: rs143879853
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000215868 SCV000269359 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Asp1151Glu in exon 23 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 1.8% (67/3808) of African American chromosomes from a broad population by the NHLBI Exome Sequencing Project (http: //evs.gs.washington.edu/EVS; dbSNP rs143879853).
Invitae RCV000227310 SCV000288001 benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002453759 SCV002616768 likely benign Inborn genetic diseases 2022-09-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: 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.
PreventionGenetics, part of Exact Sciences RCV003917879 SCV004733619 benign MYOM1-related condition 2019-02-20 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).

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