ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1949C>G (p.Ser650Ter)

dbSNP: rs1553941580
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000669174 SCV000793897 likely pathogenic Bardet-Biedl syndrome 12 2017-09-12 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000669174 SCV000894331 pathogenic Bardet-Biedl syndrome 12 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV003633531 SCV004447585 pathogenic Bardet-Biedl syndrome 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser650*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 61 amino acid(s) of the BBS12 protein. This variant is not present in population databases (gnomAD no frequency). 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: 553671). 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.

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