ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.613-1G>C

dbSNP: rs2144163316
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001382032 SCV001580633 pathogenic Bardet-Biedl syndrome 2023-09-25 criteria provided, single submitter clinical testing This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 5 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). Disruption of this splice site has been observed in individual(s) with BBS2-related conditions and/or clinical features of Bardet-Biedl syndrome (PMID: 28717663, 35112343). For these reasons, this variant has been classified as Pathogenic. Studies have shown that disruption of this splice site is associated with altered splicing resulting in unknown protein product impact (PMID: 28717663). Studies have shown that disruption of this splice site alters BBS2 gene expression (PMID: 28717663). ClinVar contains an entry for this variant (Variation ID: 1070027).
Natera, Inc. RCV001831382 SCV002089299 pathogenic Bardet-Biedl syndrome 2 2020-02-03 no assertion criteria provided clinical testing

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