ClinVar Miner

Submissions for variant NM_024649.5(BBS1):c.416G>A (p.Trp139Ter)

gnomAD frequency: 0.00001  dbSNP: rs878855095
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000230074 SCV000290795 pathogenic Bardet-Biedl syndrome 2023-10-05 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Trp139*) in the BBS1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). This variant is present in population databases (no rsID available, gnomAD 0.008%). This variant has not been reported in the literature in individuals affected with BBS1-related conditions. ClinVar contains an entry for this variant (Variation ID: 241521). For these reasons, this variant has been classified as Pathogenic.
Illumina Laboratory Services, Illumina RCV000778336 SCV000914533 likely pathogenic Bardet-Biedl syndrome 1 2024-04-24 criteria provided, single submitter clinical testing
Greenwood Genetic Center Diagnostic Laboratories, Greenwood Genetic Center RCV000778336 SCV002568154 likely pathogenic Bardet-Biedl syndrome 1 2022-05-31 criteria provided, single submitter clinical testing PVS1, PM2
GenomeConnect, ClinGen RCV000230074 SCV000607352 not provided Bardet-Biedl syndrome no assertion provided phenotyping only GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.
PreventionGenetics, part of Exact Sciences RCV004742345 SCV005356322 pathogenic BBS1-related disorder 2024-06-19 no assertion criteria provided clinical testing The BBS1 c.416G>A variant is predicted to result in premature protein termination (p.Trp139*). To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0080% of alleles in individuals of African descent in gnomAD. Nonsense variants in BBS1 are expected to be pathogenic (see, Muller et al. 2010. PubMed ID: 20177705). This variant is interpreted as pathogenic.

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