ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.996G>A (p.Met332Ile)

dbSNP: rs2135253415
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Kariminejad - Najmabadi Pathology & Genetics Center RCV001814538 SCV001755571 pathogenic Abnormality of the skin 2021-07-10 criteria provided, single submitter clinical testing
Institute for Clinical Genetics, University Hospital TU Dresden, University Hospital TU Dresden RCV002568934 SCV002009230 likely pathogenic not provided 2021-11-03 criteria provided, single submitter clinical testing
MGZ Medical Genetics Center RCV002290718 SCV002579889 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2022-05-03 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002568934 SCV003440463 pathogenic not provided 2024-11-11 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 332 of the TYR protein (p.Met332Ile). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ocular albinism and/or oculocutaneous albinism type 1 (PMID: 19060277, 25216246, 26167114, 30472657). 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: 1180809). 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 RCV003470858 SCV004207544 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-12-21 criteria provided, single submitter clinical testing

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