Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002042813 | SCV002292127 | uncertain significance | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2021-11-01 | criteria provided, single submitter | clinical testing | 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is present in population databases (rs371805116, gnomAD 0.008%). This sequence change replaces cysteine, which is neutral and slightly polar, with arginine, which is basic and polar, at codon 649 of the SDCCAG8 protein (p.Cys649Arg). |
| Ambry Genetics | RCV003382793 | SCV004089735 | uncertain significance | Inborn genetic diseases | 2023-08-10 | criteria provided, single submitter | clinical testing | The c.1945T>C (p.C649R) alteration is located in exon 16 (coding exon 16) of the SDCCAG8 gene. This alteration results from a T to C substitution at nucleotide position 1945, causing the cysteine (C) at amino acid position 649 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |