ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1338C>T (p.Asn446=)

gnomAD frequency: 0.27728  dbSNP: rs2230167
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Total submissions: 5
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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 RCV000216509 SCV000269339 benign not specified 2014-10-29 criteria provided, single submitter clinical testing p.Asn446Asn in exon 9 of MYOM1: This variant is not expected to have clinical si gnificance because it has been identified in 31% (1167/3758) of African American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs2230167).
Ambry Genetics RCV000216509 SCV000739813 likely benign not specified 2022-05-17 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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.
GeneDx RCV000838124 SCV000979988 benign not provided 2018-06-13 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Labcorp Genetics (formerly Invitae), Labcorp RCV001520122 SCV001729144 benign Hypertrophic cardiomyopathy 2025-02-03 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000838124 SCV005248189 benign not provided criteria provided, single submitter not provided

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