ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.902C>T (p.Pro301Leu)

dbSNP: rs796051880
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Science and Research Branch, Islamic Azad University, Islamic Azad University RCV000186574 SCV000222098 likely pathogenic Oculocutaneous albinism type 1 2014-09-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002515217 SCV003440309 pathogenic not provided 2024-09-23 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 301 of the TYR protein (p.Pro301Leu). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ocular albinism (PMID: 26167114; 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: 190217). 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 80%. For these reasons, this variant has been classified as Pathogenic.
Fulgent Genetics, Fulgent Genetics RCV005003521 SCV005631360 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-19 criteria provided, single submitter clinical testing

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