Submissions for variant NM_152296.5(ATP1A3):c.2226C>T (p.Asp742=)

gnomAD frequency: 0.00011  dbSNP: rs146600566

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV001087698	SCV001004734	likely benign	Dystonia 12	2024-01-19	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000863994	SCV001143139	benign	not provided	2019-04-01	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000863994	SCV001151936	likely benign	not provided	2021-07-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000863994	SCV001780687	likely benign	not provided	2018-08-28	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260081	SCV002540027	benign	Alternating hemiplegia of childhood 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260082	SCV002540030	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260083	SCV002540031	benign	Developmental and epileptic encephalopathy 99	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001087698	SCV002540032	benign	Dystonia 12	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549936	SCV004785429	likely benign	ATP1A3-related disorder	2021-07-12	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).