ClinVar Miner

Submissions for variant NM_198428.3(BBS9):c.832C>T (p.Arg278Ter)

gnomAD frequency: 0.00001  dbSNP: rs767005321
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001061507 SCV001226252 pathogenic Bardet-Biedl syndrome 2023-08-08 criteria provided, single submitter clinical testing This variant is present in population databases (rs767005321, gnomAD 0.004%). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 856112). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20177705). This sequence change creates a premature translational stop signal (p.Arg278*) in the BBS9 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS9 are known to be pathogenic (PMID: 16380913, 20177705).
Blueprint Genetics RCV001073836 SCV001239400 pathogenic Retinal dystrophy 2018-06-13 criteria provided, single submitter clinical testing
GeneDx RCV001702081 SCV003194836 likely pathogenic not provided 2023-01-17 criteria provided, single submitter clinical testing Observed in multiple affected patients in one family with Bardet-Biedl syndrome in the literature (Muller et al., 2010); Nonsense variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 25525159, 20177705)
Baylor Genetics RCV003462590 SCV004214187 pathogenic Bardet-Biedl syndrome 9 2024-03-07 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV003462590 SCV005666957 pathogenic Bardet-Biedl syndrome 9 2024-03-25 criteria provided, single submitter clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001702081 SCV001927813 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001702081 SCV001955838 pathogenic not provided no assertion criteria provided clinical testing

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