ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.2288C>T (p.Ser763Phe) (rs140313023)

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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 RCV000610132 SCV000711229 uncertain significance not specified 2016-11-10 criteria provided, single submitter clinical testing The p.Ser763Phe variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, but has been identified in 1/59738 Europea n chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstit ute.org; dbSNP rs140313023). Although this variant has been seen in the general population, its frequency is not high enough to rule out a pathogenic role. Comp utational prediction tools and conservation analysis do not provide strong suppo rt for or against an impact to the protein. In summary, the clinical significanc e of the p.Ser763Phe variant is uncertain.

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