ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.345dup (p.Lys116Ter)

dbSNP: rs1555046611
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671467 SCV000796443 likely pathogenic Bardet-Biedl syndrome 1 2017-12-14 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001049362 SCV001213408 pathogenic Bardet-Biedl syndrome 2022-07-12 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555614). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Lys116*) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803).

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