Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000667351 | SCV000791785 | likely pathogenic | Bardet-Biedl syndrome 2 | 2017-05-23 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV000667351 | SCV004214041 | pathogenic | Bardet-Biedl syndrome 2 | 2023-03-28 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003523006 | SCV004297729 | pathogenic | Bardet-Biedl syndrome | 2022-12-29 | 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: 552136). Disruption of this splice site has been observed in individual(s) with clinical features of retinal dystrophy and Bardet-Biedl syndrome (PMID: 27032803). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change affects a donor splice site in intron 3 of the BBS2 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 BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). |