Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000426061 | SCV000531446 | uncertain significance | not provided | 2016-09-15 | criteria provided, single submitter | clinical testing | The c.830+3A>G variant in the BBS1 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to destroy the splice donor site in intron 3, and is expected to cause abnormal gene splicing. The c.830+3A>G variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.830+3A>G as a variant of uncertain significance. |
Natera, |
RCV001833554 | SCV002094743 | uncertain significance | Bardet-Biedl syndrome 1 | 2019-11-11 | no assertion criteria provided | clinical testing | |
Prevention |
RCV004742420 | SCV005346497 | uncertain significance | BBS1-related disorder | 2024-07-23 | no assertion criteria provided | clinical testing | The BBS1 c.830+3A>G variant is predicted to interfere with splicing. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0031% of alleles in individuals of European (Non-Finnish) descent in gnomAD. At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence. |