ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.4064C>T (p.Ala1355Val)

dbSNP: rs397516767
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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, Mass General Brigham Personalized Medicine RCV000037496 SCV000061154 uncertain significance not specified 2012-11-07 criteria provided, single submitter clinical testing The Ala1355Val variant in MYH6 has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the A la1355Val variant may impact the protein, though this information is not predict ive enough to determine pathogenicity. Additional information is needed to fully assess the clinical significance of the Ala1355Val variant.

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