Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001044016 | SCV001207789 | pathogenic | Bardet-Biedl syndrome | 2023-09-12 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. 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: 841735). Disruption of this splice site has been observed in individual(s) with clinical features of Bardet-Biedl syndrome (Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 14 of the BBS4 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 BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). |
Revvity Omics, |
RCV001784591 | SCV002024495 | pathogenic | Bardet-Biedl syndrome 4 | 2020-11-28 | criteria provided, single submitter | clinical testing |