ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.263+1G>A

gnomAD frequency: 0.00001  dbSNP: rs137962929
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000477579 SCV000553746 pathogenic Bardet-Biedl syndrome 2023-05-08 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 412264). This sequence change affects a donor splice site in intron 3 of the BBS9 gene. RNA analysis indicates that disruption of this splice site induces altered splicing and likely disrupts the C-terminus of the protein. This variant is present in population databases (rs137962929, gnomAD 0.01%). Disruption of this splice site has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 24849935). Studies have shown that disruption of this splice site results in insertion of 4 nucleotides between exons 3 and 4 and introduces a new termination codon (PMID: 24849935). However the mRNA is not expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic.
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV002468580 SCV002765132 pathogenic Bardet-Biedl syndrome 9 2022-12-20 criteria provided, single submitter clinical testing
Baylor Genetics RCV002468580 SCV004214203 pathogenic Bardet-Biedl syndrome 9 2023-08-10 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002468580 SCV005666934 pathogenic Bardet-Biedl syndrome 9 2024-03-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003912812 SCV004731986 pathogenic BBS9-related disorder 2023-11-16 no assertion criteria provided clinical testing The BBS9 c.263+1G>A variant is predicted to disrupt the GT donor site and interfere with normal splicing. This canonical splice variant has been reported in the homozygous state in an individual with Bardet-Biedl syndrome (Fattahi et al. 2014. PubMed ID: 24849935). This variant is reported in 0.012% of alleles in individuals of African descent in gnomAD. Variants that disrupt the consensus splice donor site in BBS9 are expected to be pathogenic. This variant is interpreted as pathogenic.

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