ClinVar Miner

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

gnomAD frequency: 0.00001  dbSNP: rs775363189
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Total submissions: 4
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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 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.
GeneDx RCV001589139 SCV001814409 uncertain significance not provided 2019-09-27 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Fulgent Genetics, Fulgent Genetics RCV002478780 SCV002776072 uncertain significance Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 2021-12-09 criteria provided, single submitter clinical testing
Natera, Inc. RCV001828086 SCV002087742 uncertain significance Usher syndrome type 1C 2021-04-09 no assertion criteria provided clinical testing

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