Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001319531 | SCV001510277 | uncertain significance | not provided | 2022-02-11 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1020015). 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 serine, which is neutral and polar, with asparagine, which is neutral and polar, at codon 2913 of the USH2A protein (p.Ser2913Asn). 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, |
RCV001830330 | SCV002090808 | uncertain significance | Usher syndrome type 2A | 2021-04-15 | no assertion criteria provided | clinical testing |