ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2802A>G (p.Pro934=)

gnomAD frequency: 0.00222  dbSNP: rs79397275
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000465868 SCV000561250 benign Hypertrophic cardiomyopathy 2024-01-24 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000613577 SCV000711569 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro934Pro in exon 19 of MYOM1: 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 11.0% (22/200) of H an Chinese chromosomes from a broad population by the 1000 Genomes Project (http ://www.ncbi.nlm.nih.gov/projects/SNP; dbSNP rs79397275).
Ambry Genetics RCV002313228 SCV000739903 likely benign Inborn genetic diseases 2022-05-17 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.

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