ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1486_1489del (p.Ile496fs)

dbSNP: rs1363846772
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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 RCV001038178 SCV001201635 pathogenic Bardet-Biedl syndrome 2023-08-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ile496Valfs*50) 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: 836947). For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV004570110 SCV005054707 pathogenic Bardet-Biedl syndrome 2 2024-03-07 criteria provided, single submitter clinical testing

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