ClinVar Miner

Submissions for variant NM_006642.5(SDCCAG8):c.696del (p.Thr231_Tyr232insTer)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809898 SCV000950080 pathogenic Senior-Loken syndrome 7; Bardet-Biedl syndrome 16 2018-10-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr232*) in the SDCCAG8 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in an individual affected with Senior-Loken syndrome (Invitae). A different variant (c.696T>G) giving rise to the same protein effect observed here (p.Tyr232*) has been determined to be pathogenic (PMID: 21866095, 20835237, 22190896). This suggests that this variant is also likely to be causative of disease. Loss-of-function variants in SDCCAG8 are known to be pathogenic (PMID: 20835237). For these reasons, this variant has been classified as Pathogenic.

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