ClinVar Miner

Submissions for variant NM_002471.4(MYH6):c.1112A>G (p.Glu371Gly)

dbSNP: rs397516754
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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 RCV000037437 SCV000061095 uncertain significance not specified 2012-09-10 criteria provided, single submitter clinical testing The Glu371Gly variant in MYH6 has not been reported in the literature nor previo usly identified by our laboratory. Computational analyses (biochemical amino aci d properties, conservation, AlignGVGD, and SIFT) suggest that the variant may im pact the protein, though this information is not predictive enough to determine pathogenicity. Additional information is needed to fully assess the clinical sig nificance of this variant.

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