Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000669016 | SCV000793711 | likely pathogenic | Bardet-Biedl syndrome 1 | 2017-08-29 | criteria provided, single submitter | clinical testing | |
| Baylor Genetics | RCV000669016 | SCV004217373 | pathogenic | Bardet-Biedl syndrome 1 | 2023-07-24 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV003523008 | SCV004291439 | pathogenic | Bardet-Biedl syndrome | 2023-09-30 | criteria provided, single submitter | clinical testing | Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. ClinVar contains an entry for this variant (Variation ID: 553542). Disruption of this splice site has been observed in individuals with clinical features of Bardet-Biedl syndrome (PMID: 34940782). This variant is not present in population databases (gnomAD no frequency). This sequence change affects an acceptor splice site in intron 13 of the BBS1 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in BBS1 are known to be pathogenic (PMID: 12118255, 21520335, 27032803). For these reasons, this variant has been classified as Pathogenic. |