ClinVar Miner

Submissions for variant NM_003803.3(MYOM1):c.[64_66delGTGinsCTC;65T>G]

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine,Partners HealthCare Personalized Medicine RCV000221703 SCV000272178 uncertain significance not specified 2015-07-08 criteria provided, single submitter clinical testing The p.Val22Arg variant in MYOM1 has not been previously reported in individuals with cardiomyopathy. This variant is caused by two independent events (on the sa me allele), resulting in an overall amino acid change at position 22 from valine to arginine. The p.Val22Arg variant has been identified in 14/114132 pan ethnic chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitu te.org, pers. comm.). Computational prediction tools and conservation analysis s uggest that the p.Val22Arg variant may not impact the protein, though this infor mation is not predictive enough to rule out pathogenicity. In summary, the clini cal significance of the p.Val22Arg variant is uncertain.

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