Submissions for variant NM_152296.5(ATP1A3):c.666T>G (p.Thr222=)

gnomAD frequency: 0.93139  dbSNP: rs2217342

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145249	SCV000192306	likely benign	not specified	2013-10-31	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000285864	SCV000413451	benign	Alternating hemiplegia of childhood 2	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.
Illumina Laboratory Services, Illumina	RCV000322134	SCV000413452	benign	Dystonia 12	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 Inc	RCV000710702	SCV000840987	benign	not provided	2017-04-20	criteria provided, single submitter	clinical testing
Invitae	RCV000322134	SCV001724995	benign	Dystonia 12	2024-02-01	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000285864	SCV001774954	benign	Alternating hemiplegia of childhood 2	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001553874	SCV001774955	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-07-14	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000322134	SCV001774956	benign	Dystonia 12	2021-07-14	criteria provided, single submitter	clinical testing
GeneDx	RCV000710702	SCV001910798	benign	not provided	2018-07-05	criteria provided, single submitter	clinical testing
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000145249	SCV001739807	benign	not specified		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000145249	SCV001809492	benign	not specified		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000145249	SCV001959279	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000145249	SCV001972836	benign	not specified		no assertion criteria provided	clinical testing