Submissions for variant NM_000113.3(TOR1A):c.646G>C (p.Asp216His)

gnomAD frequency: 0.10301  dbSNP: rs1801968

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000178043	SCV000230029	benign	not specified	2015-05-21	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000178043	SCV000302316	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000020122	SCV000477597	benign	Early-onset generalized limb-onset dystonia	2018-03-06	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Invitae	RCV001513759	SCV001721432	benign	Dystonic disorder	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV001659683	SCV001874971	benign	not provided	2018-08-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 31583275, 17503336, 26940431, 23405979, 18519876, 19380705, 23460578, 20669276, 16537570)
Fulgent Genetics, Fulgent Genetics	RCV002496268	SCV002806434	benign	Early-onset generalized limb-onset dystonia; Arthrogryposis multiplex congenita 5	2021-12-01	criteria provided, single submitter	clinical testing
OMIM	RCV000005490	SCV000025672	risk factor	Dystonia 1, torsion, modifier of	2008-06-03	no assertion criteria provided	literature only
GeneReviews	RCV000020122	SCV000040442	not provided	Early-onset generalized limb-onset dystonia		no assertion provided	literature only
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000020122	SCV000734649	likely benign	Early-onset generalized limb-onset dystonia		no assertion criteria provided	clinical testing
Clinical Genetics, Academic Medical Center	RCV000178043	SCV001917178	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000178043	SCV001952026	benign	not specified		no assertion criteria provided	clinical testing