ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1974T>G (p.Tyr658Ter)

dbSNP: rs895581773
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001946899 SCV002237727 pathogenic Bardet-Biedl syndrome 2021-09-09 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr658*) 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 (ExAC no frequency). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. For these reasons, this variant has been classified as Pathogenic.

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