ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1318C>T (p.Arg440Ter)

gnomAD frequency: 0.00001  dbSNP: rs1014835928
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000667051 SCV000791442 likely pathogenic Bardet-Biedl syndrome 1 2017-05-16 criteria provided, single submitter clinical testing
Invitae RCV001060606 SCV001225306 pathogenic Bardet-Biedl syndrome 2023-08-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg440*) 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). This variant is present in population databases (no rsID available, gnomAD 0.006%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 551887). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 12524598).
Natera, Inc. RCV000667051 SCV002094766 pathogenic Bardet-Biedl syndrome 1 2021-03-18 no assertion criteria provided clinical testing

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