ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1372dup (p.Thr458fs)

dbSNP: rs1195341481
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000670273 SCV000795107 likely pathogenic Bardet-Biedl syndrome 12 2017-10-27 criteria provided, single submitter clinical testing
Invitae RCV001861789 SCV002213800 pathogenic Bardet-Biedl syndrome 2023-09-21 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 554604). For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Gln685*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. 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.Thr458Asnfs*5) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 253 amino acid(s) of the BBS12 protein.
Baylor Genetics RCV000670273 SCV004211656 pathogenic Bardet-Biedl syndrome 12 2023-10-26 criteria provided, single submitter clinical testing

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