ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1440G>T (p.Glu480Asp)

dbSNP: rs1405705464
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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 RCV002037436 SCV002115611 uncertain significance Autosomal recessive DOPA responsive dystonia 2021-10-23 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid with aspartic acid at codon 511 of the TH protein (p.Glu511Asp). The glutamic acid residue is highly conserved and there is a small physicochemical difference between glutamic acid and aspartic acid. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with TH-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 TH 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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