ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.658C>T (p.Gln220Ter)

gnomAD frequency: 0.00001  dbSNP: rs797046083
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192311 SCV000249340 pathogenic Tyrosinase-negative oculocutaneous albinism 2015-07-27 criteria provided, single submitter clinical testing
Eurofins Ntd Llc (ga) RCV000732318 SCV000860253 pathogenic not provided 2018-03-07 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000192311 SCV001821937 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000732318 SCV002234128 pathogenic not provided 2023-12-11 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gln220*) 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 (rs797046083, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. ClinVar contains an entry for this variant (Variation ID: 212523). For these reasons, this variant has been classified as Pathogenic.

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