ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.1138G>A (p.Glu380Lys) (rs876657913)

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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 RCV000215457 SCV000272145 uncertain significance not specified 2015-05-05 criteria provided, single submitter clinical testing The p.Glu380Lys variant in MYO7A has been reported in one Caucasian individual w ith Usher syndrome who carried a second variant of uncertain significance in MYO 7A (Le Quesne Stabej 2012). Data from large population studies are insufficient to assess the frequency of this variant. Computational prediction tools and cons ervation analyses suggest that the p.Glu380Lys variant may impact the protein, t hough this information is not predictive enough to determine pathogenicity. In s ummary, the clinical significance of the p.Glu380Lys variant is uncertain.

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