Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000503806 | SCV000597798 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2016-03-31 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV000762871 | SCV000893251 | pathogenic | Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2018-10-31 | criteria provided, single submitter | clinical testing | |
Gene |
RCV000085908 | SCV001782045 | pathogenic | not provided | 2020-10-19 | 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: 31199599, 19865097, 26165494, 31196117, 29658579, 22875490, 29437493, 20447099, 31229681, 25577957, 31077556, 10571953, 16570240, 22097729, 15591842, 30868138) |
Genome- |
RCV000503806 | SCV001821966 | likely pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000085908 | SCV003441031 | pathogenic | not provided | 2024-01-13 | criteria provided, single submitter | clinical testing | This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 400 of the TYR protein (p.Trp400Leu). This variant is present in population databases (rs62645916, gnomAD 0.05%). This missense change has been observed in individuals with non-syndromic ocular albinism (PMID: 31077556). ClinVar contains an entry for this variant (Variation ID: 99541). 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 | RCV003460776 | SCV004207565 | pathogenic | SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN | 2023-10-02 | criteria provided, single submitter | clinical testing | |
Retina International | RCV000085908 | SCV000118051 | not provided | not provided | no assertion provided | not provided |