Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000059600 | SCV003445196 | likely pathogenic | Lowe syndrome | 2022-02-19 | criteria provided, single submitter | clinical testing | In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. This variant disrupts the p.His524 amino acid residue in OCRL. Other variant(s) that disrupt this residue have been observed in individuals with OCRL-related conditions (PMID: 9199559, 9632163), which suggests that this may be a clinically significant amino acid residue. 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: 68719). This variant is also known as c.1736A>G or 1748A>G (H507R) . This missense change has been observed in individual(s) with Lowe syndrome (PMID: 9199559, 21225285). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces histidine, which is basic and polar, with arginine, which is basic and polar, at codon 524 of the OCRL protein (p.His524Arg). |
| Uni |
RCV000059600 | SCV000091134 | not provided | Lowe syndrome | no assertion provided | not provided |