ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.4776C>G (p.Leu1592=)

gnomAD frequency: 0.00149  dbSNP: rs1143658
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Total submissions: 3
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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 RCV000216238 SCV000270570 likely benign not specified 2015-03-11 criteria provided, single submitter clinical testing p.Leu1592Leu in exon 38 of MYOM1: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence. It has been identified in 0.3% (166/66238) of European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac. broadinstitute.org; dbSNP rs1143658).
Invitae RCV000233709 SCV000288006 benign Hypertrophic cardiomyopathy 2024-01-31 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315671 SCV000739881 likely benign Inborn genetic diseases 2022-05-18 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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