Submissions for variant NM_000360.4(TH):c.720G>A (p.Lys240=)

gnomAD frequency: 0.23916  dbSNP: rs6357

Total submissions: 12

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
PreventionGenetics, part of Exact Sciences	RCV000252592	SCV000317150	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000287153	SCV000369918	benign	Autosomal recessive DOPA responsive dystonia	2018-01-13	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.
Athena Diagnostics	RCV000710271	SCV000677520	benign	not provided	2017-04-14	criteria provided, single submitter	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000287153	SCV000745018	benign	Autosomal recessive DOPA responsive dystonia	2015-09-21	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000287153	SCV001726103	benign	Autosomal recessive DOPA responsive dystonia	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000710271	SCV001750930	benign	not provided	2015-03-03	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000287153	SCV001754948	benign	Autosomal recessive DOPA responsive dystonia	2021-07-10	criteria provided, single submitter	clinical testing
Unidad de Genómica Garrahan, Hospital de Pediatría Garrahan	RCV000252592	SCV005091709	benign	not specified	2024-07-31	criteria provided, single submitter	clinical testing	This variant is classified as Benign based on local population frequency. This variant was detected in 33% of patients studied in a panel designed for Epileptic and Developmental Encephalopathy, Progressive Myoclonus Epilepsy and Abnormal Movements and Neurodegeneration with brain iron accumulation. Number of patients: 31. Only high quality variants are reported.
Breakthrough Genomics, Breakthrough Genomics	RCV000710271	SCV005321295	benign	not provided		criteria provided, single submitter	not provided
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000287153	SCV000745784	benign	Autosomal recessive DOPA responsive dystonia	2015-02-07	no assertion criteria provided	clinical testing
Natera, Inc.	RCV000287153	SCV001463814	benign	Autosomal recessive DOPA responsive dystonia	2020-09-16	no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000252592	SCV001957618	benign	not specified		no assertion criteria provided	clinical testing