Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Molecular Diagnostics Laboratory, |
RCV000760986 | SCV000890898 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2017-04-26 | criteria provided, single submitter | clinical testing | |
Genome- |
RCV000760986 | SCV001821940 | pathogenic | Tyrosinase-negative oculocutaneous albinism | 2021-07-22 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001869037 | SCV002245793 | pathogenic | not provided | 2022-06-27 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 620587). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 21458243). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Trp238*) 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). |