ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.869_873del (p.Val290fs)

dbSNP: rs1283655166
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001385896 SCV001585912 pathogenic Bardet-Biedl syndrome 2024-04-17 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val290Alafs*20) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 421 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: 1073016). 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.
Fulgent Genetics, Fulgent Genetics RCV001536057 SCV001752752 likely pathogenic Bardet-Biedl syndrome 12 2021-11-30 criteria provided, single submitter clinical testing
Baylor Genetics RCV001536057 SCV004211670 likely pathogenic Bardet-Biedl syndrome 12 2023-09-12 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003416306 SCV004114904 likely pathogenic BBS12-related disorder 2024-05-31 no assertion criteria provided clinical testing The BBS12 c.869_873del5 variant is predicted to result in a frameshift and premature protein termination (p.Val290Alafs*20). To our knowledge, this variant has not been reported in the literature or in a large population database, indicating this variant is rare. Frameshift variants in BBS12 are expected to be pathogenic. Pathogenic protein chain terminating variants have been reported upstream and downstream of this variant, providing further evidence of pathogenicity for this variant. This variant is interpreted as likely pathogenic.

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