Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Eurofins Ntd Llc |
RCV000729366 | SCV000857021 | pathogenic | not provided | 2017-09-28 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000768436 | SCV001587965 | pathogenic | Lowe syndrome | 2020-08-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Arg810*) in the OCRL gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with Lowe syndrome (PMID: 10923037). It is also known as R793X in the literature. ClinVar contains an entry for this variant (Variation ID: 594148). Loss-of-function variants in OCRL are known to be pathogenic (PMID: 21031565, 22381590). For these reasons, this variant has been classified as Pathogenic. |
Biochemistry Laboratory of CDMU, |
RCV000768436 | SCV000899195 | pathogenic | Lowe syndrome | no assertion criteria provided | case-control |