Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002013095 | SCV002294652 | uncertain significance | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2021-04-12 | criteria provided, single submitter | clinical testing | 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: "Possibly Damaging"; Align-GVGD: "Class C15"). 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. This variant has not been reported in the literature in individuals with SDCCAG8-related conditions. This variant is present in population databases (rs747968552, ExAC 0.002%). This sequence change replaces tyrosine with serine at codon 232 of the SDCCAG8 protein (p.Tyr232Ser). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and serine. |
| Fulgent Genetics, |
RCV002013095 | SCV002778566 | uncertain significance | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2022-05-08 | criteria provided, single submitter | clinical testing |