ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.234dup (p.Asp79fs)

dbSNP: rs2149263988
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001999852 SCV002233584 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2021-07-26 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals affected with SDCCAG8-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Asp79Argfs*9) 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).

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