ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.613C>A (p.Pro205Thr)

gnomAD frequency: 0.00008  dbSNP: rs61754362
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502990 SCV000597786 pathogenic Tyrosinase-negative oculocutaneous albinism 2016-08-18 criteria provided, single submitter clinical testing
Genome-Nilou Lab RCV000502990 SCV001821933 likely pathogenic Tyrosinase-negative oculocutaneous albinism 2021-07-22 criteria provided, single submitter clinical testing
Invitae RCV000085957 SCV002167305 pathogenic not provided 2024-01-10 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 205 of the TYR protein (p.Pro205Thr). This variant is present in population databases (rs61754362, gnomAD 0.006%). This missense change has been observed in individual(s) with clinical features of oculocutaneous albinism (PMID: 13680365; Invitae). 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: 99572). 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 RCV003460783 SCV004207553 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2023-10-17 criteria provided, single submitter clinical testing
Retina International RCV000085957 SCV000118100 not provided not provided no assertion provided not provided

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