Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001234439 | SCV001407085 | pathogenic | Bardet-Biedl syndrome | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg280*) in the BBS7 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in BBS7 are known to be pathogenic (PMID: 12567324, 19402160, 21209035, 31196119). This variant is present in population databases (rs151275562, gnomAD 0.006%). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 21209035). ClinVar contains an entry for this variant (Variation ID: 960839). For these reasons, this variant has been classified as Pathogenic. |
3billion | RCV001810000 | SCV002059051 | pathogenic | Bardet-Biedl syndrome 7 | 2022-01-03 | criteria provided, single submitter | clinical testing | Stop-gained (nonsense): predicted to result in a loss or disruption of normal protein function through nonsense-mediated decay (NMD) or protein truncation. Multiple pathogenic variants are reported downstream of the variant (PVS1_VS). It is observed at an extremely low frequency in the gnomAD v2.1.1 dataset (total allele frequency: 0.000016, PM2_M). The variant has been reported to be associated with BBS7 related disorder (ClinVar ID: VCV000960839, PMID:21209035). Patient’s phenotype is considered compatible with BBS7-related disorder (PP4_P). Therefore, this variant is classified as pathogenic according to the recommendation of ACMG/AMP guideline. |
Fulgent Genetics, |
RCV001810000 | SCV002809716 | likely pathogenic | Bardet-Biedl syndrome 7 | 2021-07-04 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV001810000 | SCV004214127 | pathogenic | Bardet-Biedl syndrome 7 | 2023-10-30 | criteria provided, single submitter | clinical testing |