ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.1067A>T (p.Asp356Val)

gnomAD frequency: 0.00037  dbSNP: rs180801021
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000177047 SCV000228861 uncertain significance not provided 2014-10-28 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV002492769 SCV002801478 uncertain significance Tyrosinase-negative oculocutaneous albinism; Oculocutaneous albinism type 1B; SKIN/HAIR/EYE PIGMENTATION 3, LIGHT/DARK SKIN 2022-03-11 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000177047 SCV003520318 uncertain significance not provided 2022-08-22 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with valine, which is neutral and non-polar, at codon 356 of the TYR protein (p.Asp356Val). This variant is present in population databases (rs180801021, gnomAD 0.03%). 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: 196258). 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. 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.

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