Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001049952 | SCV001214035 | pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2023-10-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Tyr232*) 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 (rs772544112, gnomAD 0.01%). This premature translational stop signal has been observed in individual(s) with clinical features of Senior-Loken syndrome (PMID: 20835237, 21866095). ClinVar contains an entry for this variant (Variation ID: 846611). For these reasons, this variant has been classified as Pathogenic. |
| Women's Health and Genetics/Laboratory Corporation of America, |
RCV002469330 | SCV002766327 | pathogenic | Bardet-Biedl syndrome | 2022-11-18 | criteria provided, single submitter | clinical testing | Variant summary: SDCCAG8 c.696T>G (p.Tyr232X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic in ClinVar. The variant allele was found at a frequency of 5.6e-05 in 250874 control chromosomes. This frequency is not higher than predicted for a pathogenic variant in SDCCAG8 causing Bardet-Biedl Syndrome (5.6e-05 vs 0.00062), allowing no conclusion about variant significance. c.696T>G has been reported in the literature in individuals affected with Bardet-Biedl Syndrome (examples: Halbritter_2013, and Otto_2010). These data indicate that the variant is likely to be associated with disease. One clinical diagnostic laboratory has submitted clinical-significance assessments for this variant to ClinVar after 2014 and classified the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic. |
| Fulgent Genetics, |
RCV001049952 | SCV002811094 | likely pathogenic | Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 | 2022-01-08 | criteria provided, single submitter | clinical testing |