ClinVar Miner

Submissions for variant NM_001103.3(ACTN2):c.947T>C (p.Met316Thr) (rs370757762)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Clinical Services Laboratory,Illumina RCV000363438 SCV000355905 uncertain significance Hypertrophic cardiomyopathy 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000268867 SCV000355906 uncertain significance Dilated Cardiomyopathy, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000786272 SCV000553747 likely benign not provided 2019-02-16 criteria provided, single submitter clinical testing
GeneDx RCV000603522 SCV000718974 likely benign not specified 2017-11-14 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.
Ambry Genetics RCV000620316 SCV000735507 uncertain significance Cardiovascular phenotype 2017-11-15 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Stanford Center for Inherited Cardiovascular Disease,Stanford University RCV000786272 SCV000925026 uncertain significance not provided 2016-09-06 no assertion criteria provided provider interpretation p.Met316Thr (c.947T>C) in the ACTN2 gene (NM_001103.3) Given the high allele frequency (0.1%) in individuals matching our patient's ancestry, we consider this variant a variant of uncertain significance, probably benign and we do not feel it is suitable for assessing risk in healthy relatives ("predictive genetic testing"). Per the lab report the variant has not been reported in association with disease. The variant was reported online in 11 of 60705 individuals in the Exome Aggregation Consortium dataset (, which currently includes variant calls on ~64,000 individuals of European, African, Latino and Asian descent (as of 6 Sep 2016). Specifically, the variant was observed in 11 of 4327 (AF 0.001271). The phenotype of those individuals is not publicly available. The dataset is comprised of multiple cohorts, some of which were recruited from the general population, others were enriched for common cardiovascular disease.

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