Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002513316 | SCV003440456 | pathogenic | not provided | 2023-07-27 | criteria provided, single submitter | clinical testing | 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. This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 91 of the TYR protein (p.Cys91Tyr). The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 22981120, 30472657, 30996339). It has also been observed to segregate with disease in related individuals. ClinVar contains an entry for this variant (Variation ID: 39977). For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003466887 | SCV004207552 | likely pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-10-17 | criteria provided, single submitter | clinical testing | |
| OMIM | RCV000033111 | SCV000056892 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2012-10-05 | no assertion criteria provided | literature only |