Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Laboratory for Molecular Medicine, |
RCV000223498 | SCV000272877 | uncertain significance | not specified | 2016-03-29 | criteria provided, single submitter | clinical testing | The p.Gly127Arg variant in USH1C has not been previously reported in individuals with hearing loss. This variant has been identified in 1/65418 European chromos omes by the Exome Aggregation Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs768207716). Computational prediction tools and conservation analyses sug gest that the p.Gly127Arg variant may impact the protein, though this informatio n is not predictive enough to determine pathogenicity. In summary, the clinical significance of the p.Gly127Arg variant is uncertain. |
Counsyl | RCV000672839 | SCV000797985 | uncertain significance | Usher syndrome type 1C; Autosomal recessive nonsyndromic hearing loss 18A | 2018-02-20 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001241209 | SCV001414213 | uncertain significance | not provided | 2022-10-04 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 127 of the USH1C protein (p.Gly127Arg). This variant is present in population databases (rs768207716, gnomAD 0.02%). 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: 229607). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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, |
RCV001828088 | SCV002080213 | uncertain significance | Usher syndrome type 1C | 2021-05-19 | no assertion criteria provided | clinical testing |