ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.855C>A (p.Cys285Ter)

dbSNP: rs1057516427
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000411176 SCV000485656 likely pathogenic Bardet-Biedl syndrome 1 2016-01-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002523851 SCV003026165 pathogenic Bardet-Biedl syndrome 2022-02-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Cys285*) 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). This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 370358). This variant has not been reported in the literature in individuals affected with BBS1-related conditions.

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