ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.523G>T (p.Glu175Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002587370 SCV002940156 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2022-06-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu175*) 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). 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 present in population databases (rs767375284, gnomAD 0.006%).

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