ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.442+1G>C

gnomAD frequency: 0.00001  dbSNP: rs587777811
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV000002780 SCV004214215 pathogenic Bardet-Biedl syndrome 9 2022-10-27 criteria provided, single submitter clinical testing
Invitae RCV003522916 SCV004295108 likely pathogenic Bardet-Biedl syndrome 2023-05-23 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 5 of the BBS9 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 BBS9 are known to be pathogenic (PMID: 16380913, 20177705). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 16380913). This variant is also known as IVS5+1G>C. ClinVar contains an entry for this variant (Variation ID: 2661). 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.
OMIM RCV000002780 SCV000022938 pathogenic Bardet-Biedl syndrome 9 2005-12-01 no assertion criteria provided literature only

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