Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Baylor Genetics | RCV003460778 | SCV004207622 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-01-12 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000085929 | SCV004295751 | likely pathogenic | not provided | 2023-09-08 | 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. Experimental studies have shown that this missense change affects TYR function (PMID: 27537549). 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. ClinVar contains an entry for this variant (Variation ID: 99551). This missense change has been observed in individual(s) with ocular albinism (PMID: 22042571, 22294196). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with isoleucine, which is neutral and non-polar, at codon 52 of the TYR protein (p.Arg52Ile). |
| Retina International | RCV000085929 | SCV000118072 | not provided | not provided | no assertion provided | not provided |