Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Ce |
RCV000085969 | SCV001501373 | pathogenic | not provided | 2023-07-01 | criteria provided, single submitter | clinical testing | TYR: PM3:Strong, PM2, PM5, PP4:Moderate |
| Genome- |
RCV001588919 | SCV001821944 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000085969 | SCV002242450 | pathogenic | not provided | 2024-01-28 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 253 of the TYR protein (p.Gly253Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 9259202, 19626598, 34838614; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 99579). 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 TYR protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003467009 | SCV004207557 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-10-09 | criteria provided, single submitter | clinical testing | |
| Retina International | RCV000085969 | SCV000118112 | not provided | not provided | no assertion provided | not provided |