ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.446A>G (p.Tyr149Cys)

dbSNP: rs797046082
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000195203 SCV000249337 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2015-02-26 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV002517148 SCV003440457 pathogenic not provided 2024-03-26 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 149 of the TYR protein (p.Tyr149Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with oculocutaneous albinism (PMID: 18463683, 31077556). ClinVar contains an entry for this variant (Variation ID: 212522). 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 RCV003462303 SCV004207614 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-02-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003553 SCV005631920 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-14 criteria provided, single submitter clinical testing

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