ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.871C>T (p.Gln291Ter)

dbSNP: rs1057517143
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000410229 SCV000486814 pathogenic Bardet-Biedl syndrome 1 2016-08-12 criteria provided, single submitter clinical testing
Invitae RCV001239133 SCV001411984 pathogenic Bardet-Biedl syndrome 2023-09-09 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: 371274). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (BBS) (PMID: 12677556, 25170860). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln291*) 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).
Fulgent Genetics, Fulgent Genetics RCV000410229 SCV002782599 pathogenic Bardet-Biedl syndrome 1 2021-12-28 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003409566 SCV004114440 pathogenic BBS1-related condition 2023-09-14 criteria provided, single submitter clinical testing The BBS1 c.871C>T variant is predicted to result in premature protein termination (p.Gln291*). This variant has previously been reported to be causative for Bardet-Biedl Syndrome (Beales et al. 2003. PubMed ID: 12677556). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Nonsense variants in BBS1 are expected to be pathogenic. This variant is interpreted as pathogenic.

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