Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000702302 | SCV000831151 | pathogenic | Bardet-Biedl syndrome | 2023-12-21 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Leu114Trpfs*28) in the BBS4 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS4 are known to be pathogenic (PMID: 11381270, 12016587, 20177705, 27894351). This variant is present in population databases (rs750258633, gnomAD 0.002%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome however it did not segregate with disease in the family and a second BBS4 variant was not identified (PMID: 19402160). ClinVar contains an entry for this variant (Variation ID: 579105). For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003460976 | SCV004214081 | likely pathogenic | Bardet-Biedl syndrome 4 | 2023-09-25 | criteria provided, single submitter | clinical testing |