Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000599383 | SCV000710710 | likely pathogenic | not provided | 2018-02-28 | criteria provided, single submitter | clinical testing | The W80X variant in the TYR gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W80X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016). We interpret W80X as a likely pathogenic variant. |
Invitae | RCV000599383 | SCV004540590 | pathogenic | not provided | 2024-01-26 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp80*) 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 (no rsID available, gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with albinism (PMID: 29345414). ClinVar contains an entry for this variant (Variation ID: 504389). For these reasons, this variant has been classified as Pathogenic. |