Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV003061606 | SCV003461884 | likely pathogenic | not provided | 2022-04-08 | criteria provided, single submitter | clinical testing | This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 720 of the OCA2 protein (p.Arg720His). This variant is present in population databases (rs776631782, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with OCA2-related conditions. 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 OCA2 protein function. This variant disrupts the p.Arg720 amino acid residue in OCA2. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 27734839; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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. |
| Juno Genomics, |
RCV004796765 | SCV005416989 | uncertain significance | Tyrosinase-positive oculocutaneous albinism | criteria provided, single submitter | clinical testing | PM2_Supporting+PP3_Moderate+PM3_Supporting | |
| Fulgent Genetics, |
RCV005010961 | SCV005630554 | likely pathogenic | Tyrosinase-positive oculocutaneous albinism; SKIN/HAIR/EYE PIGMENTATION 1, BLUE/NONBLUE EYES | 2024-05-10 | criteria provided, single submitter | clinical testing |