Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular 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. |
Gene |
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, |
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, |
RCV001828086 | SCV002087742 | uncertain significance | Usher syndrome type 1C | 2021-04-09 | no assertion criteria provided | clinical testing |