ClinVar Miner

Submissions for variant NM_153676.4(USH1C):c.152A>G (p.Asn51Ser) (rs775363189)

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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 RCV000221329 SCV000272871 uncertain significance not specified 2016-03-03 criteria provided, single submitter clinical testing The p.Asn51Ser variant in USH1C has not been previously reported in individuals with hearing loss or Usher Syndrome, but has been identified in 1/16428 South As ian chromosomes by the Exome Aggregation Consortium (ExAC, http://exac.broadinst itute.org; dbSNP rs775363189). Although this variant has been seen in the genera l population, its frequency is not high enough to rule out a pathogenic role. Co mputational prediction tools and conservation analyses suggest that the p.Asn51S er variant may not impact the protein, though this information is not predictive enough to rule out pathogenicity. In summary, the clinical significance of the p.Asn51Ser variant is uncertain.

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