ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.204dup (p.Val69fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005196967 SCV005843736 pathogenic Bardet-Biedl syndrome 2024-12-18 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val69Cysfs*17) in the BBS5 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS5 are known to be pathogenic (PMID: 15137946, 16877420, 26325687, 27708425, 28041643, 29806606). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS5-related conditions. For these reasons, this variant has been classified as Pathogenic.

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