Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000059601 | SCV002234407 | pathogenic | Lowe syndrome | 2021-11-05 | criteria provided, single submitter | clinical testing | This variant disrupts the p.Pro526 amino acid residue in OCRL. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 19902262; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt OCRL protein function. ClinVar contains an entry for this variant (Variation ID: 68720). This variant is also known as c.1754C>T. This missense change has been observed in individual(s) with Lowe syndrome (PMID: 10767176). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 526 of the OCRL protein (p.Pro526Leu). For these reasons, this variant has been classified as Pathogenic. |
Uni |
RCV000059601 | SCV000091136 | not provided | Lowe syndrome | no assertion provided | not provided |