Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000085892 | SCV004294161 | pathogenic | not provided | 2023-09-20 | criteria provided, single submitter | clinical testing | This sequence change replaces cysteine, which is neutral and slightly polar, with tyrosine, which is neutral and polar, at codon 36 of the TYR protein (p.Cys36Tyr). This variant is present in population databases (rs61753179, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 10987646, 27734839, 29345414, 30472657, 34838614). ClinVar contains an entry for this variant (Variation ID: 99530). 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 variant disrupts the p.Cys36 amino acid residue in TYR. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 32552135, 34838614). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
Retina International | RCV000085892 | SCV000118035 | not provided | not provided | no assertion provided | not provided |