ClinVar Miner

Submissions for variant NM_152618.3(BBS12):c.1151del (p.Ser384fs)

dbSNP: rs1553941404
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000665119 SCV000789185 likely pathogenic Bardet-Biedl syndrome 12 2017-01-20 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001037529 SCV001200948 pathogenic Bardet-Biedl syndrome 2022-08-19 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Ser384Thrfs*21) in the BBS12 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 327 amino acid(s) of the BBS12 protein. 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: 550386). This variant has not been reported in the literature in individuals affected with BBS12-related conditions. This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV000665119 SCV002781985 likely pathogenic Bardet-Biedl syndrome 12 2021-09-14 criteria provided, single submitter clinical testing
GeneDx RCV000722472 SCV004168095 likely pathogenic not provided 2023-10-18 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation, as the last 327 amino acids are replaced with 20 different amino acids, and other loss-of-function variants have been reported downstream in HGMD; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV000665119 SCV004211696 likely pathogenic Bardet-Biedl syndrome 12 2024-02-02 criteria provided, single submitter clinical testing
Gharavi Laboratory, Columbia University RCV000722472 SCV000853603 uncertain significance not provided 2018-09-16 no assertion criteria provided research

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