ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2302C>A (p.Leu768Met) (rs876658110)

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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 RCV000215071 SCV000272869 uncertain significance not specified 2015-12-17 criteria provided, single submitter clinical testing The p.Leu768Met variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome or in large population studies. Computation al prediction tools and conservation analyses suggest that the p.Leu768Met varia nt may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Leu768 Met variant is uncertain.

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