Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
RCV000192311 | SCV000249340 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2015-07-27 | criteria provided, single submitter | clinical testing | |
Eurofins Ntd Llc |
RCV000732318 | SCV000860253 | pathogenic | not provided | 2018-03-07 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000192311 | SCV001821937 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000732318 | SCV002234128 | pathogenic | not provided | 2023-12-11 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln220*) in the TYR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TYR are known to be pathogenic (PMID: 23504663). This variant is present in population databases (rs797046083, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. ClinVar contains an entry for this variant (Variation ID: 212523). For these reasons, this variant has been classified as Pathogenic. |