ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.124+1G>C

dbSNP: rs1057516449
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411354 SCV000485696 likely pathogenic Bardet-Biedl syndrome 1 2016-02-02 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003522961 SCV004291898 pathogenic Bardet-Biedl syndrome 2023-11-08 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 2 of the BBS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (PMID: 19797195, 32949114). ClinVar contains an entry for this variant (Variation ID: 370386). 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.
Baylor Genetics RCV000411354 SCV005054661 likely pathogenic Bardet-Biedl syndrome 1 2024-03-29 criteria provided, single submitter clinical testing

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