ClinVar Miner

Submissions for variant NM_031885.4(BBS2):c.402del (p.Ala136fs) (rs1368647604)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Integrated Genetics/Laboratory Corporation of America RCV000780957 SCV000918637 likely pathogenic Bardet-Biedl syndrome 2 2018-05-14 criteria provided, single submitter clinical testing Variant summary: BBS2 c.402delT (p.Ala136ArgfsX65) 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 (eg. c.814C>T (p.Arg272X), c.823C>T (p.Arg275X), and c.1864C>T (p.Arg622X)). The variant allele was found at a frequency of 4.1e-06 in 246204 control chromosomes (gnomAD). The variant, c.402delT, has been reported in the literature in compound heterozygosity with BBS2 c.627delTT , p.L209fs*229 in individual affected with Bardet-Biedl Syndrome (Hichri_2005), indicating that the variant is likely to be associated with BBS. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as likely pathogenic.

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