Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000794610 | SCV000934029 | pathogenic | Lowe syndrome | 2023-09-20 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg822*) in the OCRL gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in OCRL are known to be pathogenic (PMID: 19390221, 21031565, 22381590). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with clinical features of Lowe syndrome (PMID: 21031565, 25480730). ClinVar contains an entry for this variant (Variation ID: 641377). For these reasons, this variant has been classified as Pathogenic. |
Hudson |
RCV000851318 | SCV000993613 | pathogenic | Dent disease type 2 | 2019-03-29 | criteria provided, single submitter | research | |
3billion | RCV000794610 | SCV003842102 | pathogenic | Lowe syndrome | 2023-02-23 | criteria provided, single submitter | clinical testing | The variant is not observed in the gnomAD v2.1.1 dataset. This variant was 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. The variant has been reported at least twice as pathogenic without evidence for the classification (ClinVar ID: VCV000641377 / PMID: 21031565). Therefore, this variant is classified as Pathogenic according to the recommendation of ACMG/AMP guideline. |