Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV000085921 | SCV001248578 | likely pathogenic | not provided | 2022-09-01 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000004006 | SCV001810224 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV000085921 | SCV003441032 | pathogenic | not provided | 2024-11-05 | criteria provided, single submitter | clinical testing | This sequence change replaces aspartic acid, which is acidic and polar, with asparagine, which is neutral and polar, at codon 448 of the TYR protein (p.Asp448Asn). This variant is present in population databases (rs104894318, gnomAD 0.005%). This missense change has been observed in individual(s) with TYR-related conditions (PMID: 1642278, 10987646, 13680365, 27734839). 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: 3802). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TYR protein function. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV004566680 | SCV005055653 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-01-08 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005003331 | SCV005631390 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-03-14 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000004006 | SCV000024172 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 1992-07-15 | no assertion criteria provided | literature only | |
Retina International | RCV000085921 | SCV000118064 | not provided | not provided | no assertion provided | not provided |