Total submissions: 6
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000085902 | SCV001873662 | pathogenic | not provided | 2021-02-08 | criteria provided, single submitter | clinical testing | Published functional studies demonstrate that the variant disrupts normal enzyme function (Liou et al., 2006); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 16293621, 1905879, 8477259, 26165494, 18463683, 8128955, 1642278, 17803231, 7886000, 10094567, 7849740, 30868138, 7963676, 19865097, 25046395) |
| Baylor Genetics | RCV003460416 | SCV004207560 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-10-06 | criteria provided, single submitter | clinical testing | |
| Labcorp Genetics |
RCV000085902 | SCV004296119 | pathogenic | not provided | 2024-05-16 | criteria provided, single submitter | clinical testing | This sequence change replaces asparagine, which is neutral and polar, with lysine, which is basic and polar, at codon 382 of the TYR protein (p.Asn382Lys). This variant is present in population databases (rs104894315, gnomAD 0.002%). This missense change has been observed in individual(s) with ocular albinism (PMID: 1642278, 1905879, 19865097). 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: 3786). 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. |
| Fulgent Genetics, |
RCV005007816 | SCV005631377 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-03-27 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000003989 | SCV000024155 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 1991-07-01 | no assertion criteria provided | literature only | |
| Retina International | RCV000085902 | SCV000118045 | not provided | not provided | no assertion provided | not provided |