Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001365634 | SCV001561910 | uncertain significance | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 700 of the SDCCAG8 protein (p.Arg700Trp). This variant is present in population databases (rs369591883, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. ClinVar contains an entry for this variant (Variation ID: 1056755). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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. |
| Fulgent Genetics, |
RCV001365634 | SCV002792325 | uncertain significance | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2022-01-12 | criteria provided, single submitter | clinical testing | |
| Prevention |
RCV004528486 | SCV004107217 | uncertain significance | SDCCAG8-related disorder | 2023-12-12 | criteria provided, single submitter | clinical testing | The SDCCAG8 c.2098C>T variant is predicted to result in the amino acid substitution p.Arg700Trp. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.014% of alleles in individuals of Latino descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |