ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.1447C>T (p.Arg483Ter) (rs745656125)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000804705 SCV000944627 pathogenic Bardet-Biedl syndrome 2018-08-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg483*) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs745656125, ExAC 0.002%). This variant has been observed in an individual affected with Bardet-Biedl syndrome (PMID: 12677556). Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000804705 SCV001362213 pathogenic Bardet-Biedl syndrome 2019-11-22 criteria provided, single submitter clinical testing Variant summary: BBS1 c.1447C>T (p.Arg483X) 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 240090 control chromosomes (gnomAD). c.1447C>T has been reported in the literature in individuals affected with Bardet-Biedl Syndrome (BEales_2003, Deveault_2011, gerth_2008, Jacobson_2014, Muller_2010). 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. A ClinVar submission (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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