ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.343G>C (p.Ala115Pro)

gnomAD frequency: 0.00001  dbSNP: rs761376417
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001298698 SCV001487761 uncertain significance Torsion dystonia 6 2023-08-10 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 1002296). This variant has not been reported in the literature in individuals affected with THAP1-related conditions. This variant is present in population databases (rs761376417, gnomAD 0.03%). This sequence change replaces alanine, which is neutral and non-polar, with proline, which is neutral and non-polar, at codon 115 of the THAP1 protein (p.Ala115Pro). 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 tolerated.
GeneDx RCV001587326 SCV001826549 likely benign not provided 2021-04-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV004036114 SCV004965806 uncertain significance Inborn genetic diseases 2024-01-30 criteria provided, single submitter clinical testing The c.343G>C (p.A115P) alteration is located in exon 3 (coding exon 3) of the THAP1 gene. This alteration results from a G to C substitution at nucleotide position 343, causing the alanine (A) at amino acid position 115 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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