Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000501972 | SCV000597791 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2016-03-15 | criteria provided, single submitter | clinical testing | |
Gene |
RCV001564521 | SCV001787700 | likely pathogenic | not provided | 2019-06-06 | criteria provided, single submitter | clinical testing | In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31589614, 25577957, 10987646, 11295837, 8128955, 18463683, 13680365, 30868138, 19626598, 29781739) |
Genome- |
RCV000501972 | SCV001821948 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001564521 | SCV002236672 | pathogenic | not provided | 2024-11-03 | criteria provided, single submitter | clinical testing | This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 294 of the TYR protein (p.Glu294Lys). This variant is present in population databases (rs757754120, gnomAD 0.004%). This missense change has been observed in individual(s) with oculocutaneous albinism type 1A (PMID: 8128955, 10987646). 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: 437177). 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) indicates that this missense variant is expected to disrupt TYR protein function with a positive predictive value of 95%. This variant disrupts the p.Glu294 amino acid residue in TYR. Other variant(s) that disrupt this residue have been determined to be pathogenic (internal data). 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. |
Baylor Genetics | RCV003464076 | SCV004207603 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-03-29 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005010440 | SCV005631356 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-01-03 | criteria provided, single submitter | clinical testing |