Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000193333 | SCV000248834 | pathogenic | Senior-Loken syndrome 7 | 2015-04-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001390072 | SCV001591677 | pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2023-05-24 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln161*) 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). This variant is present in population databases (rs797045947, gnomAD 0.003%). 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: 212140). For these reasons, this variant has been classified as Pathogenic. |