ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.440G>A (p.Arg147His) (rs111033512)

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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 RCV000036142 SCV000059794 uncertain significance not specified 2011-03-09 criteria provided, single submitter clinical testing The Arg147His variant in MYO7A has not been reported in the literature nor previ ously identified in any other families by our laboratory. Computational analyses (PolyPhen2, SIFT) of this amino acid change suggest that it may impact the prot ein based upon high amino acid conservation at Arg147 across many species. Howev er, this information is not predictive enough to assume pathogenicity. In summar y, the clinical significance of the Arg147His variant cannot be determined at th is time.

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