ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1285C>T (p.Arg429Ter) (rs768443448)

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Total submissions: 6
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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
Integrated Genetics/Laboratory Corporation of America RCV000169362 SCV000699513 likely pathogenic Bardet-Biedl syndrome 2019-11-11 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. A truncation downstream of this position have been classified as pathogenic by our laboratory (c.1645G>T, p.Glu549X). The variant allele was found at a frequency of 1.2e-05 in 251846 control chromosomes (gnomAD). c.1285C>T has been reported in the literature in individuals affected with Bardet-Biedl Syndrome (Beales_2003, Hichri_2005). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. Another ClinVar submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as likely pathogenic.
Invitae RCV000169362 SCV000826045 pathogenic Bardet-Biedl syndrome 2019-10-18 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. This variant is present in population databases (rs768443448, ExAC 0.006%). This variant has been reported in the literature in individuals affected with Bardet-Biedl syndrome (PMID: 12677556, 20876674, 15770229). ClinVar contains an entry for this variant (Variation ID: 188983). Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255). For these reasons, this variant has been classified as Pathogenic.
Institute of Human Genetics,Klinikum rechts der Isar RCV000984149 SCV001150025 pathogenic Bardet-Biedl syndrome 1 2018-01-25 criteria provided, single submitter clinical testing
CeGaT Praxis fuer Humangenetik Tuebingen RCV001092071 SCV001248425 pathogenic not provided 2019-03-01 criteria provided, single submitter clinical testing
Counsyl RCV000984149 SCV001132132 likely pathogenic Bardet-Biedl syndrome 1 2014-09-24 no assertion criteria provided clinical testing

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