ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.481C>T (p.Gln161Ter)

gnomAD frequency: 0.00001  dbSNP: rs797045947
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago 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.
PreventionGenetics, part of Exact Sciences RCV004530146 SCV004728065 pathogenic SDCCAG8-related disorder 2024-01-17 criteria provided, single submitter clinical testing The SDCCAG8 c.481C>T variant is predicted to result in premature protein termination (p.Gln161*). This variant has been reported in the homozygous state in an individual with autosomal recessive retinitis pigmentosa and kidney failure (Biswas et al. 2021. PubMed ID: 34662339). This variant is reported in 0.0029% of alleles in individuals of Latino descent in gnomAD. In ClinVar, this variant is interpreted as pathogenic (https://preview.ncbi.nlm.nih.gov/clinvar/variation/212140/). Nonsense variants in SDCCAG8 are expected to be pathogenic (Otto et al. 2010. PubMed ID: 20835237). This variant is interpreted as pathogenic.

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