ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1199G>T (p.Trp400Leu)

gnomAD frequency: 0.00004  dbSNP: rs62645916
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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 RCV000503806 SCV000597798 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2016-03-31 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000762871 SCV000893251 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; Ocular albinism with congenital sensorineural hearing loss; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2018-10-31 criteria provided, single submitter clinical testing
GeneDx RCV000085908 SCV001782045 pathogenic not provided 2020-10-19 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: 31199599, 19865097, 26165494, 31196117, 29658579, 22875490, 29437493, 20447099, 31229681, 25577957, 31077556, 10571953, 16570240, 22097729, 15591842, 30868138)
Genome-Nilou Lab RCV000503806 SCV001821966 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000085908 SCV003441031 pathogenic not provided 2024-01-13 criteria provided, single submitter clinical testing This sequence change replaces tryptophan, which is neutral and slightly polar, with leucine, which is neutral and non-polar, at codon 400 of the TYR protein (p.Trp400Leu). This variant is present in population databases (rs62645916, gnomAD 0.05%). This missense change has been observed in individuals with non-syndromic ocular albinism (PMID: 31077556). ClinVar contains an entry for this variant (Variation ID: 99541). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt TYR protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460776 SCV004207565 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-10-02 criteria provided, single submitter clinical testing
Retina International RCV000085908 SCV000118051 not provided not provided no assertion provided not provided

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