ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.1022G>C (p.Gly341Ala)

dbSNP: rs8099021
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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 RCV000216131 SCV000269336 benign not specified 2014-11-26 criteria provided, single submitter clinical testing This is a RefSeq error. The reference base (c.1022G) is the minor allele. This a llele (G) has been identified in 28% (2372/8340) of European American chromosome s and 19% (769/4008) of African American chromosomes by the NHLBI Exome Sequenci ng Project (http://evs.gs.washington.edu/EVS/; dbSNP rs8099021) and thus meets c riteria to be classified as benign.
Ambry Genetics RCV002315655 SCV000739815 benign Inborn genetic diseases 2019-02-07 criteria provided, single submitter clinical testing This alteration is classified as 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.
GeneDx RCV000838120 SCV000979984 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.
Invitae RCV001520124 SCV001729146 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing

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