Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV000672782 | SCV004214044 | pathogenic | Bardet-Biedl syndrome 2 | 2023-03-23 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV001861814 | SCV002228418 | pathogenic | Bardet-Biedl syndrome | 2024-05-23 | criteria provided, single submitter | clinical testing | This sequence change affects an acceptor splice site in intron 8 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). This variant is present in population databases (rs777234811, gnomAD 0.0009%). Disruption of this splice site has been observed in individual(s) with retinitis pigmentosa (PMID: 30902645). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 556737). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic. |
| Counsyl | RCV000672782 | SCV000797922 | likely pathogenic | Bardet-Biedl syndrome 2 | 2018-02-14 | no assertion criteria provided | clinical testing | This submission and the accompanying classification are no longer maintained by the submitter. For more information on current observations and classification, please contact variantquestions@myriad.com. |