ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.700C>T (p.Arg234Ter) (rs779690256)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669549 SCV000794311 pathogenic Bardet-Biedl syndrome 2 2017-09-21 criteria provided, single submitter clinical testing
Invitae RCV000815857 SCV000956332 pathogenic Bardet-Biedl syndrome 2019-09-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg234*) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs779690256, ExAC 0.003%). This variant has been observed in individuals with clinical features of a ciliopathy disorder (PMID: 15666242, 27894351). ClinVar contains an entry for this variant (Variation ID: 554001). Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252). For these reasons, this variant has been classified as Pathogenic.
Integrated Genetics/Laboratory Corporation of America RCV000815857 SCV001361414 pathogenic Bardet-Biedl syndrome 2019-08-05 criteria provided, single submitter clinical testing Variant summary: BBS2 c.700C>T (p.Arg234X) 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. The variant allele was found at a frequency of 2.8e-05 in 251228 control chromosomes (gnomAD). c.700C>T has been reported in the literature in compound heterozygous and homozygous states in individuals affected with Bardet-Biedl Syndrome (Deveault_2011, Karmous-Benailly_2005, Patel_2016, Shaheen_2016). 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 submitter (evaluation after 2014) cites the variant as pathogenic. Based on the evidence outlined above, the variant was classified as pathogenic.

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