ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.239G>A (p.Trp80Ter)

gnomAD frequency: 0.00001  dbSNP: rs1183890194
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx 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.

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