ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1121T>C (p.Val374Ala)

dbSNP: rs1846072496
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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 RCV001862469 SCV002124314 uncertain significance Autosomal recessive DOPA responsive dystonia 2021-08-12 criteria provided, single submitter clinical testing This sequence change replaces valine with alanine at codon 405 of the TH protein (p.Val405Ala). The valine residue is highly conserved and there is a small physicochemical difference between valine and alanine. This variant is not present in population databases (ExAC no frequency). This missense change has been observed in individual(s) with clinical features of TH-related conditions (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. 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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