ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.6025G>A (p.Ala2009Thr) (rs397516325)

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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 RCV000036217 SCV000059869 uncertain significance not specified 2012-12-20 criteria provided, single submitter clinical testing The Ala2009Thr variant in MYO7A has not been reported in the literature nor prev iously identified by our laboratory. Computational analyses (biochemical amino a cid properties, conservation, AlignGVGD, PolyPhen2, and SIFT) suggest that the A la2009Thr variant may impact the protein, though this information is not predict ive enough to determine pathogenicity.

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