ClinVar Miner

Submissions for variant NM_018105.3(THAP1):c.427A>G (p.Met143Val) (rs374512193)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Soonchunhyang University Bucheon Hospital,Soonchunhyang University Medical Center RCV000490517 SCV000267526 uncertain significance Torsion dystonia 6 2016-03-18 criteria provided, single submitter reference population
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000302642 SCV000343497 uncertain significance not provided 2016-07-21 criteria provided, single submitter clinical testing
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000490517 SCV001135003 uncertain significance Torsion dystonia 6 2019-12-31 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 3 of the THAP1 gene that results in the amino acid substitution of Valine for Methionine at codon 143 was detected. The observed variant c.427A>G (p.Met143Val) has not been reported in the 1000 genomes database and has a minor allele frequency of 0.007% in the ExAC database. The in silico prediction of the variant is damaging by LRT. The reference codon is conserved across species. In summary, the variant meets our criteria to be classified as variant of unknown significance.

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