ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1375C>T (p.Gln459Ter) (rs1269565757)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000638353 SCV000759850 pathogenic Bardet-Biedl syndrome 2019-08-09 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS12 gene (p.Gln459*). While this is not anticipated to result in nonsense mediated decay, it is expected to delete the last 252 amino acids of the BBS12 protein. This variant is not present in population databases (ExAC no frequency). This variant has been reported as homozygous in an individual affected with Bardet-Biedl syndrome (Invitae). A different truncation (p.Arg675*) that lies downstream of this variant has been reported in individuals affected with Bardet-Biedl syndrome and determined to be Pathogenic (PMID: 20827784, 21642631, Invitae database). This suggests that deletion of this region of the BBS12 protein is causative of disease. For these reasons, this variant has been classified as Pathogenic.
Counsyl RCV000669123 SCV000793837 likely pathogenic Bardet-Biedl syndrome 12 2017-09-01 criteria provided, single submitter clinical testing

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