Submissions for variant NM_152296.5(ATP1A3):c.1974C>T (p.Thr658=)

gnomAD frequency: 0.00004  dbSNP: rs145869619

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000865926	SCV001006955	benign	Dystonia 12	2023-12-27	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001133922	SCV001293636	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	RCV000865926	SCV001293637	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.
Genome-Nilou Lab	RCV001133922	SCV002540033	benign	Alternating hemiplegia of childhood 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260093	SCV002540034	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002260094	SCV002540035	benign	Developmental and epileptic encephalopathy 99	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000865926	SCV002540036	benign	Dystonia 12	2021-12-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV004549946	SCV004765486	likely benign	ATP1A3-related disorder	2019-02-28	criteria provided, single submitter	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).