ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.682_683insT (p.Gln228fs)

gnomAD frequency: 0.00001  dbSNP: rs770872200
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000673937 SCV000799195 likely pathogenic Bardet-Biedl syndrome 12 2018-04-12 criteria provided, single submitter clinical testing
Invitae RCV000797524 SCV000937085 pathogenic Bardet-Biedl syndrome 2024-01-04 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln228Leufs*8) 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 (rs770872200, gnomAD 0.002%). 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: 557758). This variant disrupts a region of the BBS12 protein in which other variant(s) (p.Arg355*, p.Arg675*) have been determined to be pathogenic (PMID: 17160889, 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 RCV000673937 SCV002811641 likely pathogenic Bardet-Biedl syndrome 12 2021-12-21 criteria provided, single submitter clinical testing

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