ClinVar Miner

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

dbSNP: rs1683644662
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001059256 SCV001223876 pathogenic Bardet-Biedl syndrome 2022-07-06 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. 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. ClinVar contains an entry for this variant (Variation ID: 854247). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005029641 SCV005654446 likely pathogenic Bardet-Biedl syndrome 5 2024-04-30 criteria provided, single submitter clinical testing

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