ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.590G>A (p.Gly197Asp)

gnomAD frequency: 0.00008  dbSNP: rs140694378
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000516397 SCV000615808 likely benign not specified 2017-04-18 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000762509 SCV000892836 uncertain significance not provided 2018-09-01 criteria provided, single submitter clinical testing
GeneDx RCV000762509 SCV002575424 likely benign not provided 2018-12-31 criteria provided, single submitter clinical testing See Variant Classification Assertion Criteria.
Invitae RCV002527549 SCV003244770 uncertain significance Torsion dystonia 6 2023-11-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 197 of the THAP1 protein (p.Gly197Asp). This variant is present in population databases (rs140694378, gnomAD 0.02%). 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: 448686). 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.
Ambry Genetics RCV002527550 SCV003694837 uncertain significance Inborn genetic diseases 2022-12-16 criteria provided, single submitter clinical testing The c.590G>A (p.G197D) alteration is located in exon 3 (coding exon 3) of the THAP1 gene. This alteration results from a G to A substitution at nucleotide position 590, causing the glycine (G) at amino acid position 197 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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