ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1762_1765del (p.Val588fs)

dbSNP: rs1964155109
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Endocrinology Laboratory, Christian Medical College RCV001823858 SCV002073529 likely pathogenic Bardet-Biedl syndrome 2 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001885368 SCV002138138 pathogenic Bardet-Biedl syndrome 2023-12-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val588Ilefs*9) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. 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). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1339335). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV001823858 SCV004214031 likely pathogenic Bardet-Biedl syndrome 2 2023-06-02 criteria provided, single submitter clinical testing

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