Submissions for variant NM_152296.5(ATP1A3):c.1323G>A (p.Ala441=)

dbSNP: rs34578730

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145247	SCV000192304	uncertain significance	Alternating hemiplegia of childhood 2	2014-06-27	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000406176	SCV000336191	benign	not specified	2015-10-12	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000283640	SCV000413437	benign	Dystonia 12	2018-01-12	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	RCV000145247	SCV000413438	benign	Alternating hemiplegia of childhood 2	2018-01-12	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	RCV000283640	SCV000556855	benign	Dystonia 12	2024-01-29	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000857914	SCV001143138	benign	not provided	2019-07-03	criteria provided, single submitter	clinical testing
GeneDx	RCV000857914	SCV001771949	likely benign	not provided	2021-09-24	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000857914	SCV002498477	benign	not provided	2024-05-01	criteria provided, single submitter	clinical testing	ATP1A3: BP4, BP7, BS1, BS2
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen	RCV000857914	SCV001741592	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000857914	SCV001807675	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000406176	SCV001959341	benign	not specified		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000857914	SCV001969393	likely benign	not provided		no assertion criteria provided	clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC)	RCV000857914	SCV002036922	likely benign	not provided		no assertion criteria provided	clinical testing