ClinVar Miner

Submissions for variant NM_000260.4(MYO7A):c.5641G>A (p.Gly1881Arg) (rs373886432)

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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 RCV000614677 SCV000711164 uncertain significance not specified 2016-11-23 criteria provided, single submitter clinical testing The p.Gly1881Arg variant in MYO7A has not been previously reported in individual s with hearing loss or Usher syndrome. This variant has been identified in 1/457 54 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.b; dbSNP rs373886432); however, its frequency is not high enough to rule out a pathogenic role. Computational prediction tools and conservation analysis suggest that the p.Gly1881Arg variant may impact the protein, though th is information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly1881Arg variant is uncertain.

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