Submissions for variant NM_152296.5(ATP1A3):c.*106T>C

gnomAD frequency: 0.01288  dbSNP: rs180885057

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Illumina Laboratory Services, Illumina	RCV000299464	SCV000413397	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	RCV000337913	SCV000413398	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.
GeneDx	RCV001575786	SCV001802846	likely benign	not provided	2018-07-17	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000337913	SCV002539966	benign	Alternating hemiplegia of childhood 2	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259854	SCV002539967	benign	Cerebellar ataxia-areflexia-pes cavus-optic atrophy-sensorineural hearing loss syndrome	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259855	SCV002539968	benign	Developmental and epileptic encephalopathy 99	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV000299464	SCV002539969	benign	Dystonia 12	2021-12-05	criteria provided, single submitter	clinical testing
Breakthrough Genomics, Breakthrough Genomics	RCV001575786	SCV005208459	likely benign	not provided		criteria provided, single submitter	not provided