ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.682C>T (p.Gln228Ter)

dbSNP: rs769588983
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665632 SCV000789785 likely pathogenic Bardet-Biedl syndrome 12 2017-02-21 criteria provided, single submitter clinical testing
Invitae RCV001389867 SCV001591389 pathogenic Bardet-Biedl syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln228*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 483 amino acid(s) of the BBS12 protein. This variant is present in population databases (rs769588983, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. ClinVar contains an entry for this variant (Variation ID: 550788). This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Arg355*) have been determined to be pathogenic (PMID: 17160889, 23591405). 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.
Baylor Genetics RCV000665632 SCV004211716 likely pathogenic Bardet-Biedl syndrome 12 2022-04-26 criteria provided, single submitter clinical testing

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