ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.471+1G>A

dbSNP: rs1555523584
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667351 SCV000791785 likely pathogenic Bardet-Biedl syndrome 2 2017-05-23 criteria provided, single submitter clinical testing
Baylor Genetics RCV000667351 SCV004214041 pathogenic Bardet-Biedl syndrome 2 2023-03-28 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003523006 SCV004297729 pathogenic Bardet-Biedl syndrome 2022-12-29 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. This sequence change affects a donor splice site in intron 3 of the BBS2 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 BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). 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 retinal dystrophy and Bardet-Biedl syndrome (PMID: 27032803). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 552136). For these reasons, this variant has been classified as Pathogenic.

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