ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.714G>A (p.Trp238Ter)

dbSNP: rs1565386964
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV000760986 SCV000890898 pathogenic Tyrosinase-negative oculocutaneous albinism 2017-04-26 criteria provided, single submitter clinical testing
Genome-Nilou Lab 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).

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