Total submissions: 5
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 | |
Invitae | RCV000085921 | SCV003441032 | pathogenic | not provided | 2023-12-24 | 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). 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 not expected to disrupt TYR protein function with a negative predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
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 |