ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1036G>T (p.Gly346Ter)

gnomAD frequency: 0.00001  dbSNP: rs1013801316
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000503855 SCV000597795 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-03-29 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV001092183 SCV001248571 pathogenic not provided 2018-10-01 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000503855 SCV001821955 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Molecular Diagnostics Laboratory, M Health Fairview: University of Minnesota RCV001730694 SCV001981545 pathogenic Oculocutaneous albinism type 1 2021-08-17 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV000503855 SCV002579801 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2022-02-24 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001092183 SCV004296115 pathogenic not provided 2024-09-24 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Gly346*) 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 0.003%). This premature translational stop signal has been observed in individual(s) with clinical features of ocular albinism (PMID: 8026428). ClinVar contains an entry for this variant (Variation ID: 437179). 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.
Baylor Genetics RCV004568641 SCV005054557 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-30 criteria provided, single submitter clinical testing

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