ClinVar Miner

Submissions for variant NM_033028.5(BBS4):c.55C>T (p.Gln19Ter)

dbSNP: rs2542892124
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV003465078 SCV004214086 likely pathogenic Bardet-Biedl syndrome 4 2023-08-16 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523201 SCV004366343 pathogenic Bardet-Biedl syndrome 2023-12-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln19*) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with BBS4-related conditions. 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.

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