Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000155310 | SCV000204996 | uncertain significance | not specified | 2013-12-15 | criteria provided, single submitter | clinical testing | The Gly807Ser variant in USH1C has not been previously reported in individuals w ith hearing loss, but has been identified in 0.03% (3/8586) of European American chromosomes by the NHLBI Exome Sequencing Project (http://evs.gs.washington.edu /EVS/; dbSNP rs142652588). Computational analyses (biochemical amino acid proper ties, conservation, AlignGVGD, PolyPhen2, and SIFT) do not provide strong suppor t for or against an impact to the protein. In summary, additional data is neede d to determine the clinical significance of this variant. |
Genomic Research Center, |
RCV000791090 | SCV000930361 | uncertain significance | Usher syndrome type 1C | 2019-04-27 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001545234 | SCV001764522 | uncertain significance | not provided | 2023-01-24 | criteria provided, single submitter | clinical testing | In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge |
Fulgent Genetics, |
RCV002478457 | SCV002779772 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A; Usher syndrome type 1 | 2021-09-07 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001545234 | SCV003285216 | uncertain significance | not provided | 2022-08-22 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 507 of the USH1C protein (p.Gly507Ser). This variant is present in population databases (rs142652588, gnomAD 0.05%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. ClinVar contains an entry for this variant (Variation ID: 178562). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. |
Natera, |
RCV000791090 | SCV001462399 | uncertain significance | Usher syndrome type 1C | 2020-04-11 | no assertion criteria provided | clinical testing |