ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter)

dbSNP: rs768443448
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000169362 SCV000220733 likely pathogenic Bardet-Biedl syndrome 2014-09-24 criteria provided, single submitter literature only
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000169362 SCV000699513 pathogenic Bardet-Biedl syndrome 2021-05-10 criteria provided, single submitter clinical testing Variant summary: BBS1 c.1285C>T (p.Arg429X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. Truncations downstream of this position have been classified as pathogenic by our laboratory. The variant allele was found at a frequency of 1.2e-05 in 251846 control chromosomes. c.1285C>T has been reported in the literature in individuals affected with Bardet-Biedl Syndrome and in at-least one individual among a cohort of patients with Leber congenital amaurosis (example, Beales_2003, Hichri_2005, Surl_2020, Hirano_2020). These data indicate that the variant is likely to be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Four clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as pathogenic (n=3)/likely pathogenic (n=1). Based on the evidence outlined above, the variant was classified as pathogenic.
Invitae RCV000169362 SCV000826045 pathogenic Bardet-Biedl syndrome 2023-10-29 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg429*) 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 (rs768443448, gnomAD 0.003%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 12677556, 15770229, 20876674). ClinVar contains an entry for this variant (Variation ID: 188983). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics Munich, Klinikum Rechts Der Isar, TU München RCV000984149 SCV001150025 pathogenic Bardet-Biedl syndrome 1 2018-01-25 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092071 SCV001248425 pathogenic not provided 2021-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV000984149 SCV001520774 likely pathogenic Bardet-Biedl syndrome 1 2020-01-20 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Fulgent Genetics, Fulgent Genetics RCV000984149 SCV001752721 pathogenic Bardet-Biedl syndrome 1 2021-06-30 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000984149 SCV003824020 likely pathogenic Bardet-Biedl syndrome 1 2022-03-22 criteria provided, single submitter clinical testing
Counsyl RCV000984149 SCV001132132 likely pathogenic Bardet-Biedl syndrome 1 2014-09-24 no assertion criteria provided clinical testing
Clinical Genetics, Academic Medical Center RCV001092071 SCV001918628 likely pathogenic not provided no assertion criteria provided clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht RCV001092071 SCV001929003 pathogenic not provided no assertion criteria provided clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+ RCV001092071 SCV001951708 pathogenic not provided no assertion criteria provided clinical testing
Natera, Inc. RCV000984149 SCV002094764 pathogenic Bardet-Biedl syndrome 1 2020-01-17 no assertion criteria provided clinical testing

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