ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.424dup (p.Asp142fs) (rs1553941258)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671801 SCV000796821 likely pathogenic Bardet-Biedl syndrome 12 2018-01-08 criteria provided, single submitter clinical testing
Invitae RCV001246835 SCV001420222 pathogenic Bardet-Biedl syndrome 2019-10-29 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS12 gene (p.Asp142Glyfs*10). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 569 amino acids of the BBS12 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 555890). This variant disrupts the C-terminus of the BBS12 protein. Other variant(s) that disrupt this region (p.Arg675*) have been determined to be pathogenic (PMID: 20827784, 21642631). This suggests that variants that disrupt this region of the protein are likely to be causative of disease. For these reasons, this variant has been classified as Pathogenic.

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