Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV001307883 | SCV001497311 | uncertain significance | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2022-07-26 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with phenylalanine, which is neutral and non-polar, at codon 139 of the SDCCAG8 protein (p.Cys139Phe). This variant is present in population databases (rs773522256, gnomAD 0.0009%). 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: 1010279). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). 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. |
| Ambry Genetics | RCV004034148 | SCV004944633 | uncertain significance | Inborn genetic diseases | 2023-12-21 | criteria provided, single submitter | clinical testing | The c.416G>T (p.C139F) alteration is located in exon 4 (coding exon 4) of the SDCCAG8 gene. This alteration results from a G to T substitution at nucleotide position 416, causing the cysteine (C) at amino acid position 139 to be replaced by a phenylalanine (F). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |