ClinVar Miner

Submissions for variant NM_000360.4(TH):c.217T>C (p.Phe73Leu)

dbSNP: rs577028504
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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 RCV002044017 SCV002114749 uncertain significance Autosomal recessive DOPA responsive dystonia 2021-04-27 criteria provided, single submitter clinical testing 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. This variant has not been reported in the literature in individuals with TH-related conditions. This sequence change replaces phenylalanine with leucine at codon 104 of the TH protein (p.Phe104Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. This variant is present in population databases (rs577028504, ExAC 0.009%).

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