ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1133G>C (p.Arg378Pro) (rs397516282)

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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 RCV000036041 SCV000059693 uncertain significance not specified 2013-02-12 criteria provided, single submitter clinical testing The Arg378Pro variant in MYO7A has not been reported in the literature nor previ ously identified by our laboratory. Computational analyses (biochemical amino ac id properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the Ar g378Pro variant may impact the protein, though this information is not predictiv e enough to determine pathogenicity. Additional data is needed to determine the clinical significance of this variant.

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