ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.739T>C (p.Cys247Arg)

dbSNP: rs367543068
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000499895 SCV000597787 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2016-03-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001857485 SCV002248540 likely pathogenic not provided 2021-01-18 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. 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. This variant has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 25455140, Invitae). 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: 144106). This variant is not present in population databases (ExAC no frequency). This sequence change replaces cysteine with arginine at codon 247 of the TYR protein (p.Cys247Arg). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and arginine.
Laboratorio de Genetica Humana; Universidad de los Andes RCV000133603 SCV000188661 untested Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B no assertion provided not provided Converted during submission to not provided.

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