ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.424A>G (p.Thr142Ala)

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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 RCV003079625 SCV003470294 uncertain significance Torsion dystonia 6 2024-10-07 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with alanine, which is neutral and non-polar, at codon 142 of the THAP1 protein (p.Thr142Ala). This variant is present in population databases (no rsID available, gnomAD 0.0009%). This variant has not been reported in the literature in individuals affected with THAP1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2157617). 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 tolerated. Experimental studies have shown that this missense change does not substantially affect THAP1 function (PMID: 21752024). 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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