ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.875C>T (p.Thr292Met)

gnomAD frequency: 0.00003  dbSNP: rs61754372
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000085976 SCV002116922 uncertain significance not provided 2022-01-31 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 292 of the TYR protein (p.Thr292Met). This variant is present in population databases (rs61754372, gnomAD 0.004%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. ClinVar contains an entry for this variant (Variation ID: 99585). 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 not expected to disrupt 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 RCV002477253 SCV002785686 uncertain significance Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2021-12-23 criteria provided, single submitter clinical testing
Retina International RCV000085976 SCV000118119 not provided not provided no assertion provided not provided

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