Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | 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, |
RCV000778336 | SCV000914533 | uncertain significance | Bardet-Biedl syndrome 1 | 2018-02-06 | criteria provided, single submitter | clinical testing | The BBS1 c.416G>A (p.Trp139Ter) variant is a stop-gained variant predicted to result in premature termination of the protein. A literature search was performed for the gene, cDNA change, and amino acid change. No publications were found based on this search. This variant is reported at a frequency of 0.000083 in the African population from the Genome Aggregation Database, however this is based on two alleles so the variant is presumed to be rare. Based on the variant frequency, disease prevalence, disease penetrance, and inheritance mode, this variant could not be ruled out of causing disease. Due to the potential impact of stop-gained variants and the lack of clarifying evidence, this variant is classified as a variant of unknown significance but suspicious for pathogenicity for Bardet-Biedl syndrome. This variant was observed by ICSL as part of a predisposition screen in an ostensibly healthy population. |
| Greenwood Genetic Center Diagnostic Laboratories, |
RCV000778336 | SCV002568154 | likely pathogenic | Bardet-Biedl syndrome 1 | 2022-05-31 | criteria provided, single submitter | clinical testing | PVS1, PM2 |
| Genome |
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. |