ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.241C>T (p.Arg81Cys) (rs876658111)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000223556 SCV000272874 uncertain significance not specified 2015-08-11 criteria provided, single submitter clinical testing The p.Arg81Cys variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome and was absent from large population studies . Computational prediction tools and conservation analysis suggest that the p.Ar g81Cys variant may impact the protein, though this information is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Arg81Cys variant is uncertain.
Counsyl RCV000669850 SCV000794642 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-10-12 criteria provided, single submitter clinical testing

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