ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1320_1326dup (p.Gln443fs)

dbSNP: rs1553941433
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000671677 SCV000796676 likely pathogenic Bardet-Biedl syndrome 12 2017-12-28 criteria provided, single submitter clinical testing
Invitae RCV001058016 SCV001222551 pathogenic Bardet-Biedl syndrome 2022-07-05 criteria provided, single submitter clinical testing This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Arg675*) have been determined to be pathogenic (PMID: 20827784, 21642631). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 555788). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln443Cysfs*22) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 268 amino acid(s) of the BBS12 protein.

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