Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001369697 | SCV001566144 | uncertain significance | not provided | 2021-08-28 | criteria provided, single submitter | clinical testing | This sequence change replaces leucine with valine at codon 180 of the USH1C protein (p.Leu180Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. This variant is present in population databases (rs747331051, ExAC 0.003%). This variant has not been reported in the literature in individuals affected with USH1C-related conditions. 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: "Benign"; 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, |
RCV001836374 | SCV002077601 | uncertain significance | Usher syndrome type 1C | 2020-12-18 | no assertion criteria provided | clinical testing |