Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Baylor- |
RCV000785610 | SCV000924189 | uncertain significance | Tyrosinase-negative oculocutaneous albinism | criteria provided, single submitter | research | ||
Invitae | RCV003558555 | SCV004295752 | likely pathogenic | not provided | 2023-05-01 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects TYR function (PMID: 28266639). 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. This variant disrupts the p.Cys55 amino acid residue in TYR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 18463683, 19865097, 31077556). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 617794). This missense change has been observed in individual(s) with ocular albinism (PMID: 28266639). This variant is present in population databases (rs28940879, gnomAD 0.007%). This sequence change replaces cysteine, which is neutral and slightly polar, with serine, which is neutral and polar, at codon 55 of the TYR protein (p.Cys55Ser). |
University of Washington Center for Mendelian Genomics, |
RCV000755067 | SCV000882885 | likely pathogenic | Nonsyndromic Oculocutaneous Albinism | 2017-03-07 | no assertion criteria provided | research |