ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1083delinsGGGTG (p.Asp362fs)

dbSNP: rs1800908907
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001257210 SCV001433738 pathogenic Bardet-Biedl syndrome 2017-10-04 criteria provided, single submitter clinical testing This sequence change results in a premature translational stop signal in the BBS12 gene (p.Asp362Glyfs*13). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 349 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 disease. A different truncation downstream of this variant (p.Arg675*) has been determined to be pathogenic (PMID: 20827784, 21642631). 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.
Baylor Genetics RCV003473839 SCV004211698 likely pathogenic Bardet-Biedl syndrome 12 2023-04-24 criteria provided, single submitter clinical testing

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