ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.250C>T (p.Gln84Ter)

dbSNP: rs201658593
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001932690 SCV002177108 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-02-08 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln84*) 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 not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. For these reasons, this variant has been classified as Pathogenic.

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