ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.373A>C (p.Thr125Pro)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003499739 SCV004285664 uncertain significance Torsion dystonia 6 2023-05-23 criteria provided, single submitter clinical testing 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. 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. This variant has not been reported in the literature in individuals affected with THAP1-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces threonine, which is neutral and polar, with proline, which is neutral and non-polar, at codon 125 of the THAP1 protein (p.Thr125Pro).
Ambry Genetics RCV004676227 SCV005168775 uncertain significance Inborn genetic diseases 2024-04-20 criteria provided, single submitter clinical testing The c.373A>C (p.T125P) alteration is located in exon 3 (coding exon 3) of the THAP1 gene. This alteration results from a A to C substitution at nucleotide position 373, causing the threonine (T) at amino acid position 125 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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