ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.753C>A (p.Tyr251Ter)

dbSNP: rs765329261
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500843 SCV000597788 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-03-15 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000500843 SCV001821943 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV002527304 SCV003460081 pathogenic not provided 2023-11-27 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Tyr251*) 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 not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with oculocutaneous albinism (PMID: 29345414, 30472657; Invitae). ClinVar contains an entry for this variant (Variation ID: 437175). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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