ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.1516A>G (p.Asn506Asp)

gnomAD frequency: 0.00001  dbSNP: rs868001349
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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, Mass General Brigham Personalized Medicine RCV000611534 SCV000731823 uncertain significance not specified 2017-08-10 criteria provided, single submitter clinical testing The p.Asn506Asp variant in USH1C has not been previously reported in individuals with hearing loss or Usher syndrome, or in large population studies. Computatio nal prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance of t he p.Asn506Asp variant is uncertain.
Department Of Genetics, Sultan Qaboos University Hospital, Sultan Qaboos University RCV002284967 SCV002574743 uncertain significance Usher syndrome type 1C 2022-06-30 criteria provided, single submitter clinical testing

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