ClinVar Miner

Submissions for variant NM_000360.4(TH):c.1389G>A (p.Thr463=)

gnomAD frequency: 0.00010  dbSNP: rs370029424
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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 RCV001271304 SCV001009152 likely benign Autosomal recessive DOPA responsive dystonia 2024-01-08 criteria provided, single submitter clinical testing
Natera, Inc. RCV001271304 SCV001452383 uncertain significance Autosomal recessive DOPA responsive dystonia 2020-01-24 no assertion criteria provided clinical testing
PreventionGenetics, part of Exact Sciences RCV003965719 SCV004784621 likely benign TH-related disorder 2020-04-29 no assertion criteria provided clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).

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