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: 9
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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
Labcorp Genetics (formerly Invitae), Labcorp RCV000085957 SCV002167305 pathogenic not provided 2025-01-07 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; 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: 99572). 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 RCV003460783 SCV004207553 pathogenic SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-03-15 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000085957 SCV004811631 pathogenic not provided 2024-03-01 criteria provided, single submitter clinical testing TYR: PM3:Very Strong, PM2, PM5, PP4
NHS Central & South Genomic Laboratory Hub RCV004782235 SCV005393977 pathogenic Albinism or congenital nystagmus 2024-11-11 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005003465 SCV005631929 likely pathogenic Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2024-01-29 criteria provided, single submitter clinical testing
Retina International RCV000085957 SCV000118100 not provided not provided no assertion provided not provided
PreventionGenetics, part of Exact Sciences RCV004739352 SCV005360883 pathogenic TYR-related disorder 2024-08-29 no assertion criteria provided clinical testing The TYR c.613C>A variant is predicted to result in the amino acid substitution p.Pro205Thr. This variant has been reported in multiple individuals with oculocutaneous albinism (Camand et al. 2001. PubMed ID: 11295837; King et al. 2003. PubMed ID: 13680365; Hutton and Spritz. 2008. PubMed ID: 18463683). This variant is reported in 0.0054% of alleles in individuals of European (Non-Finnish) descent in gnomAD. Given the evidence, we interpret this variant as pathogenic.

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