ClinVar Miner

Submissions for variant NM_031885.5(BBS2):c.1986dup (p.Asn663Ter)

gnomAD frequency: 0.00001  dbSNP: rs1597001788
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001214197 SCV001385868 pathogenic Bardet-Biedl syndrome 2024-01-14 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn663*) 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: 943913). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV002504256 SCV002799329 likely pathogenic Bardet-Biedl syndrome 2; Retinitis pigmentosa 74 2022-03-04 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462723 SCV004214038 likely pathogenic Bardet-Biedl syndrome 2 2024-03-09 criteria provided, single submitter clinical testing

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