ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2727G>A (p.Pro909=)

gnomAD frequency: 0.00188  dbSNP: rs72860212
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206084 SCV000261252 benign Hypertrophic cardiomyopathy 2024-01-04 criteria provided, single submitter clinical testing
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000602390 SCV000711570 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Pro909Pro in exon 18 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 0.3% (28/8220) of E uropean American chromosomes from a broad population by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS; dbSNP rs72860212).
Ambry Genetics RCV002315634 SCV000739812 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.
PreventionGenetics, part of Exact Sciences RCV003907769 SCV004724257 likely benign MYOM1-related condition 2019-08-08 criteria provided, single submitter 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).

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