ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1699C>T (p.Pro567Ser)

dbSNP: rs549628785
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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, Mass General Brigham Personalized Medicine RCV000613385 SCV000712192 uncertain significance not specified 2016-06-09 criteria provided, single submitter clinical testing The p.Pro567Ser variant in exon 18 of USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computational prediction tools and conservation analyses do not provide strong support for or against an impact to the protein. In summary, the clinical signif icance of the p.Pro567Ser variant is uncertain.

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