ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.892C>T (p.Arg298Trp)

gnomAD frequency: 0.00006  dbSNP: rs200854796
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001934284 SCV002207792 uncertain significance not provided 2024-10-26 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 298 of the TYR protein (p.Arg298Trp). This variant is present in population databases (rs200854796, gnomAD 0.006%). This missense change has been observed in individual(s) with oculocutaneous albinism (PMID: 23504663). ClinVar contains an entry for this variant (Variation ID: 1438484). 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) has been performed for this missense variant. However, the output from this modeling did not meet the statistical confidence thresholds required to predict the impact of this variant on TYR protein function. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Fulgent Genetics, Fulgent Genetics RCV002492028 SCV002781253 uncertain significance Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2022-05-12 criteria provided, single submitter clinical testing

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