ClinVar Miner

Submissions for variant NM_003803.4(MYOM1):c.2383C>G (p.Arg795Gly) (rs201618512)

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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 RCV000223598 SCV000272167 uncertain significance not specified 2015-08-06 criteria provided, single submitter clinical testing The p.Arg795Gly variant in MYOM1 has not been previously reported in individuals with cardiomyopathy, but has been identified in 1/65584 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP r s201618512). Computational prediction tools and conservation analysis suggest th at the p.Arg795Gly variant may impact the protein, though this information is no t predictive enough to determine pathogenicity. This variant is located in the l ast three bases of the exon, which is part of the 3' splice region. Computationa l tools do not suggest an impact to splicing. However, this information is not p redictive enough to rule out pathogenicity. In summary, the clinical significan ce of the p.Arg795Gly variant is uncertain.

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