Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001039563 | SCV001203095 | pathogenic | Bardet-Biedl syndrome | 2022-11-14 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 838085). This variant has not been reported in the literature in individuals affected with BBS2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Ala615Glyfs*2) in the BBS2 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS2 are known to be pathogenic (PMID: 11285252, 20177705, 24608809, 26518167). |
Baylor Genetics | RCV003461447 | SCV004214056 | likely pathogenic | Bardet-Biedl syndrome 2 | 2022-10-03 | criteria provided, single submitter | clinical testing |