ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.646C>T (p.Arg216Ter) (rs121908180)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668482 SCV000793094 pathogenic Bardet-Biedl syndrome 2 2017-08-01 criteria provided, single submitter clinical testing
Invitae RCV001056084 SCV001220503 pathogenic Bardet-Biedl syndrome 2020-10-20 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg216*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with Bardet-Biedl syndrome (PMID: 11567139, 20120035). ClinVar contains an entry for this variant (Variation ID: 4583). Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001056084 SCV001554509 pathogenic Bardet-Biedl syndrome 2021-03-18 criteria provided, single submitter clinical testing Variant summary: BBS2 c.646C>T (p.Arg216X) 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 251182 control chromosomes. c.646C>T has been reported in the literature in multiple individuals affected with Bardet-Biedl Syndrome. These data indicate that the variant is very likely to be associated with disease. 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/likely pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.
OMIM RCV000004845 SCV000025021 pathogenic Bardet-biedl syndrome 2/6, digenic 2001-09-21 no assertion criteria provided literature only
Medical Genetics Laboratory, Kennedy Center,Juliane Marie Center, Rigshospitalet RCV000787791 SCV000926801 likely pathogenic Retinal dystrophy 2018-04-01 no assertion criteria provided research
Natera, Inc. RCV000668482 SCV001458471 pathogenic Bardet-Biedl syndrome 2 2020-09-16 no assertion criteria provided clinical testing

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