Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001233255 | SCV001405841 | uncertain significance | not provided | 2022-07-11 | criteria provided, single submitter | clinical testing | This variant has not been reported in the literature in individuals affected with USH2A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glycine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 420 of the USH2A protein (p.Gly420Ser). ClinVar contains an entry for this variant (Variation ID: 959836). 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. Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The serine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. |
Natera, |
RCV001828856 | SCV002093992 | uncertain significance | Usher syndrome type 2A | 2021-04-07 | no assertion criteria provided | clinical testing |