ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1111-2A>G

gnomAD frequency: 0.00001  dbSNP: rs761969357
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001035665 SCV001198999 likely pathogenic Bardet-Biedl syndrome 2024-01-11 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 11 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 present in population databases (no rsID available, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 834889). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV001832373 SCV002787138 likely pathogenic Bardet-Biedl syndrome 1 2022-03-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001832373 SCV004217361 likely pathogenic Bardet-Biedl syndrome 1 2023-10-10 criteria provided, single submitter clinical testing
Natera, Inc. RCV001832373 SCV002094756 likely pathogenic Bardet-Biedl syndrome 1 2020-09-29 no assertion criteria provided clinical testing

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