ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.629A>C (p.Lys210Thr) (rs372789934)

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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 RCV000152556 SCV000201772 uncertain significance not specified 2016-05-21 criteria provided, single submitter clinical testing The p.Lys210Thr variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome. This variant has been identified in 2/6620 6 European chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.br oadinstitute.org; dbSNP rs372789934). Computational prediction tools and conserv ation analyses suggest that this variant may impact the protein, though this inf ormation is not predictive enough to determine pathogenicity. In summary, the cl inical significance of the p.Lys210Thr variant is uncertain.
Counsyl RCV000674723 SCV000800114 uncertain significance Usher syndrome, type 1C; Deafness, autosomal recessive 18 2018-05-22 criteria provided, single submitter clinical testing

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