Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001241874 | SCV001414926 | uncertain significance | not provided | 2022-07-25 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 3463 of the USH2A protein (p.Asp3463Gly). This variant is present in population databases (rs146014881, gnomAD 0.2%). This missense change has been observed in individual(s) with clinical features of USH2A-related conditions (Invitae). ClinVar contains an entry for this variant (Variation ID: 967058). 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. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. 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. |
Dept Of Ophthalmology, |
RCV003887955 | SCV004707889 | uncertain significance | Retinal dystrophy | 2023-10-01 | criteria provided, single submitter | research | |
Natera, |
RCV001836213 | SCV002088360 | uncertain significance | Usher syndrome type 2A | 2020-01-23 | no assertion criteria provided | clinical testing |