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: 2
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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.

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