Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001389155 | SCV001590421 | pathogenic | Bardet-Biedl syndrome 3; Retinitis pigmentosa 55 | 2023-06-10 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly2*) in the ARL6 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ARL6 are known to be pathogenic (PMID: 15258860, 19858128, 20142850, 22334370, 27486776, 31736247). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1075539). This premature translational stop signal has been observed in individual(s) with Bardet-Biedl syndrome (PMID: 20142850). It has also been observed to segregate with disease in related individuals. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. |
Mendelics | RCV002246376 | SCV002518517 | pathogenic | Bardet-Biedl syndrome 1 | 2022-05-04 | criteria provided, single submitter | clinical testing |