Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000727227 | SCV000706763 | pathogenic | not provided | 2017-03-09 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000591698 | SCV000831565 | pathogenic | Lowe syndrome | 2021-06-06 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in OCRL are known to be pathogenic (PMID: 21031565, 22381590). This variant has been observed to segregate with Lowe syndrome in a family (PMID: 10364518) and is present in individuals with Lowe syndrome (PMID: 25480730, 28973083). ClinVar contains an entry for this variant (Variation ID: 500705). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Arg334*) in the OCRL gene. It is expected to result in an absent or disrupted protein product. |