ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.567G>A (p.Trp189Ter)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001059256 SCV001223876 pathogenic Bardet-Biedl syndrome 2019-11-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp189*) in the BBS5 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 not been reported in the literature in individuals with BBS5-related conditions. Loss-of-function variants in BBS5 are known to be pathogenic (PMID: 15137946). For these reasons, this variant has been classified as Pathogenic.

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