ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.116G>A (p.Trp39Ter)

gnomAD frequency: 0.00001  dbSNP: rs775683960
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000520545 SCV000617794 pathogenic not provided 2017-07-17 criteria provided, single submitter clinical testing The W39X variant in the TYR gene has been reported previously in an individual with oculocutaneous albinism type 1B who also harbored a missense pathogenic variant on the other TYR allele (King et al., 2003). This variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The W39X variant is not observed at a significant frequency in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). We interpret W39X as a pathogenic variant.
Genome-Nilou Lab RCV001591179 SCV001821917 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000520545 SCV003440455 pathogenic not provided 2022-10-17 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: 449541). This premature translational stop signal has been observed in individual(s) with ocular albinism (PMID: 13680365, 27734839). This variant is present in population databases (rs775683960, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Trp39*) 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).
Baylor Genetics RCV004568665 SCV005054561 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-20 criteria provided, single submitter clinical testing

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