ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.265T>C (p.Cys89Arg)

gnomAD frequency: 0.00002  dbSNP: rs28940877
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000626678 SCV000747381 pathogenic Albinism; Abnormal retinal morphology; Strabismus; Abnormal optic nerve morphology; Horizontal nystagmus; Hypopigmentation of the skin; Ocular albinism; Fair hair 2017-01-01 criteria provided, single submitter clinical testing
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV000003984 SCV001368679 pathogenic Tyrosinase-negative oculocutaneous albinism 2019-11-07 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PS3,PM2,PP3.
Genome-Nilou Lab RCV000003984 SCV001821925 pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000085941 SCV002235131 pathogenic not provided 2021-09-25 criteria provided, single submitter clinical testing This variant disrupts the p.Cys89 amino acid residue in TYR. Other variant(s) that disrupt this residue have been observed in individuals with TYR-related conditions (PMID: 25216246), which suggests that this may be a clinically significant amino acid residue. This sequence change replaces cysteine with arginine at codon 89 of the TYR protein (p.Cys89Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 1899321, 16517127, 27734839). In at least one individual the data is consistent with the variant being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 3781). 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. For these reasons, this variant has been classified as Pathogenic.
MGZ Medical Genetics Center RCV000003984 SCV002579976 pathogenic Tyrosinase-negative oculocutaneous albinism 2022-05-16 criteria provided, single submitter clinical testing
OMIM RCV000003984 SCV000024150 pathogenic Tyrosinase-negative oculocutaneous albinism 2020-02-03 no assertion criteria provided literature only
Retina International RCV000085941 SCV000118084 not provided not provided no assertion provided not provided

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