ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2879T>C (p.Ile960Thr)

gnomAD frequency: 0.19218  dbSNP: rs1071600
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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 RCV000214925 SCV000269356 benign not specified 2014-11-24 criteria provided, single submitter clinical testing Ile960Thr in exon 19 of MYOM1: This variant is not expected to have clinical sig nificance because it has been identified in 26.1% (1017/3904) of African America n chromosomes from a broad population by the NHLBI Exome Sequencing Project (htt p://evs.gs.washington.edu/EVS; dbSNP rs1071600).
Ambry Genetics RCV002315663 SCV000739811 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 RCV000838128 SCV000979992 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 RCV001514337 SCV001722159 benign Hypertrophic cardiomyopathy 2024-02-01 criteria provided, single submitter clinical testing

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