ClinVar Miner

Submissions for variant NM_152384.3(BBS5):c.177G>A (p.Trp59Ter)

dbSNP: rs767221160
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003633480 SCV004388638 pathogenic Bardet-Biedl syndrome 2023-02-10 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp59*) 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 present in population databases (no rsID available, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 15137946). ClinVar contains an entry for this variant (Variation ID: 6160). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000006535 SCV000026718 pathogenic Bardet-Biedl syndrome 5 2004-05-14 no assertion criteria provided literature only

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