ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.325G>A (p.Gly109Arg)

gnomAD frequency: 0.00009  dbSNP: rs61753253
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626679 SCV000747382 likely pathogenic Foveal hypoplasia; Albinism; Abnormality of metabolism/homeostasis; Elevated circulating hepatic transaminase concentration; Slow decrease in visual acuity; Choroidal neovascularization 2017-01-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085945 SCV002229119 pathogenic not provided 2024-11-17 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 109 of the TYR protein (p.Gly109Arg). This variant is present in population databases (rs61753253, gnomAD 0.01%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 11295837, 27734839, 29345414; internal data). 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: 99562). 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%. For these reasons, this variant has been classified as Pathogenic.
Baylor Genetics RCV003460780 SCV004207555 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-26 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003462 SCV005631913 pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-05-14 criteria provided, single submitter clinical testing
Retina International RCV000085945 SCV000118088 not provided not provided no assertion provided not provided

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