ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.20C>A (p.Ala7Asp)

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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 RCV005200689 SCV005835076 uncertain significance Torsion dystonia 6 2025-01-06 criteria provided, single submitter clinical testing This sequence change replaces alanine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 7 of the THAP1 protein (p.Ala7Asp). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with dystonia (PMID: 22377579). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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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