ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.245C>G (p.Ser82Cys) (rs769021971)

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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 RCV000215948 SCV000272875 uncertain significance not specified 2015-11-25 criteria provided, single submitter clinical testing The p.Ser82Cys variant in USH1C has not been previously reported in individuals with hearing loss and was absent from large population studies. Computational pr ediction tools and conservation analysis suggest that this variant may impact th e protein, though this information is not predictive enough to determine pathoge nicity. In summary, the clinical significance of the p.Ser82Cys variant is uncer tain.
Counsyl RCV000671029 SCV000795967 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2017-11-26 criteria provided, single submitter clinical testing

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