Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000579189 | SCV000681256 | likely pathogenic | not provided | 2017-12-21 | criteria provided, single submitter | clinical testing | The Q573X variant in the SDCCAG8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The Q573X variant is not observed in large population cohorts (Lek et al., 2016). We interpret Q573X as a likely pathogenic variant. |
| Invitae | RCV002530371 | SCV002986260 | pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2022-12-29 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 489261). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln573*) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237, 22190896). |