ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.880G>A (p.Glu294Lys)

gnomAD frequency: 0.00001  dbSNP: rs757754120
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501972 SCV000597791 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-03-15 criteria provided, single submitter clinical testing
GeneDx RCV001564521 SCV001787700 likely pathogenic not provided 2019-06-06 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; This variant is associated with the following publications: (PMID: 31589614, 25577957, 10987646, 11295837, 8128955, 18463683, 13680365, 30868138, 19626598, 29781739)
Genome-Nilou Lab RCV000501972 SCV001821948 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001564521 SCV002236672 pathogenic not provided 2024-11-03 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 294 of the TYR protein (p.Glu294Lys). This variant is present in population databases (rs757754120, gnomAD 0.004%). This missense change has been observed in individual(s) with oculocutaneous albinism type 1A (PMID: 8128955, 10987646). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 437177). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is expected to disrupt TYR protein function with a positive predictive value of 95%. This variant disrupts the p.Glu294 amino acid residue in TYR. Other variant(s) that disrupt this residue have been determined to be pathogenic (internal data). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003464076 SCV004207603 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-29 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005010440 SCV005631356 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-03 criteria provided, single submitter clinical testing

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