Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000195203 | SCV000249337 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2015-02-26 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV002517148 | SCV003440457 | pathogenic | not provided | 2024-03-26 | criteria provided, single submitter | clinical testing | This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 149 of the TYR protein (p.Tyr149Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with oculocutaneous albinism (PMID: 18463683, 31077556). ClinVar contains an entry for this variant (Variation ID: 212522). 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 with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic. |
Baylor Genetics | RCV003462303 | SCV004207614 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2024-02-17 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005003553 | SCV005631920 | likely 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 |