Submissions for variant NM_152296.5(ATP1A3):c.816G>A (p.Thr272=)

gnomAD frequency: 0.00140  dbSNP: rs149898088

Total submissions: 13

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV001084095	SCV000645417	benign	Dystonia 12	2024-01-25	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710703	SCV000840988	benign	not provided	2018-03-05	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001084095	SCV001290051	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.
Illumina Laboratory Services, Illumina	RCV001130475	SCV001290052	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.
GeneDx	RCV000710703	SCV001915453	benign	not provided	2019-01-16	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001130475	SCV002539061	benign	Alternating hemiplegia of childhood 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260011	SCV002539062	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260012	SCV002539063	benign	Developmental and epileptic encephalopathy 99	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001084095	SCV002539065	benign	Dystonia 12	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710703	SCV002543935	likely benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing	ATP1A3: BP4, BP7
Genome Diagnostics Laboratory, Amsterdam University Medical Center	RCV000710703	SCV001808265	likely benign	not provided		no assertion criteria provided	clinical testing
Genome Diagnostics Laboratory, University Medical Center Utrecht	RCV000710703	SCV001927671	likely benign	not provided		no assertion criteria provided	clinical testing
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV001724053	SCV001955323	benign	not specified		no assertion criteria provided	clinical testing