ClinVar Miner

Submissions for variant NM_000360.4(TH):c.392T>C (p.Phe131Ser)

gnomAD frequency: 0.00001  dbSNP: rs958536401
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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 RCV001881573 SCV002148031 uncertain significance Autosomal recessive DOPA responsive dystonia 2021-08-29 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 162 of the TH protein (p.Phe162Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected 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 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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