ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.640C>T (p.Arg214Ter)

gnomAD frequency: 0.00001  dbSNP: rs745448288
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000674776 SCV000800171 likely pathogenic Bardet-Biedl syndrome 12 2018-05-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000674776 SCV002810014 likely pathogenic Bardet-Biedl syndrome 12 2021-12-21 criteria provided, single submitter clinical testing
Invitae RCV002531359 SCV003525232 pathogenic Bardet-Biedl syndrome 2023-09-12 criteria provided, single submitter clinical testing 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.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. ClinVar contains an entry for this variant (Variation ID: 558497). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is present in population databases (rs745448288, gnomAD 0.003%). This sequence change creates a premature translational stop signal (p.Arg214*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 497 amino acid(s) of the BBS12 protein.
Baylor Genetics RCV000674776 SCV004211688 likely pathogenic Bardet-Biedl syndrome 12 2024-02-20 criteria provided, single submitter clinical testing

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