ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1649_1650del (p.Leu550fs)

dbSNP: rs750146549
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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 RCV001390543 SCV001592285 pathogenic Bardet-Biedl syndrome 2025-01-06 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Leu550Glnfs*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 present in population databases (rs750146549, gnomAD 0.0009%). 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: 1076595). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002499821 SCV002777322 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2024-01-23 criteria provided, single submitter clinical testing

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