ClinVar Miner

Submissions for variant NM_000372.5(TYR):c.470G>A (p.Gly157Asp)

gnomAD frequency: 0.00005  dbSNP: rs372458096
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001904058 SCV002122226 uncertain significance not provided 2021-07-30 criteria provided, single submitter clinical testing This sequence change replaces glycine with aspartic acid at codon 157 of the TYR protein (p.Gly157Asp). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and aspartic acid. This variant is present in population databases (rs372458096, ExAC 0.03%). This variant has not been reported in the literature in individuals affected with TYR-related conditions. 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.

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