ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.696T>G (p.Tyr232Ter)

gnomAD frequency: 0.00006  dbSNP: rs772544112
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae 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, LabCorp 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, Fulgent Genetics RCV001049952 SCV002811094 likely pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-01-08 criteria provided, single submitter clinical testing

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