ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.104C>A (p.Ser35Ter)

gnomAD frequency: 0.00001  dbSNP: rs1381368546
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000525828 SCV000636537 pathogenic Bardet-Biedl syndrome 2023-12-31 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser35*) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 676 amino acid(s) of the BBS12 protein. This variant is present in population databases (no rsID available, gnomAD 0.009%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20472660). ClinVar contains an entry for this variant (Variation ID: 462963). For these reasons, this variant has been classified as Pathogenic.
Genetic Services Laboratory, University of Chicago RCV001821531 SCV002066909 pathogenic not provided 2017-11-15 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001834777 SCV002794602 likely pathogenic Bardet-Biedl syndrome 12 2021-11-06 criteria provided, single submitter clinical testing
Baylor Genetics RCV001834777 SCV004211702 pathogenic Bardet-Biedl syndrome 12 2023-03-07 criteria provided, single submitter clinical testing
Natera, Inc. RCV001834777 SCV002082473 pathogenic Bardet-Biedl syndrome 12 2021-01-26 no assertion criteria provided clinical testing

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