Submissions for variant NM_000702.4(ATP1A2):c.1203C>T (p.Thr401=)

dbSNP: rs547954866

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV001712182	SCV000512191	benign	not provided	2020-07-02	criteria provided, single submitter	clinical testing
Invitae	RCV000635235	SCV000756619	benign	Familial hemiplegic migraine	2023-11-10	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259930	SCV002539742	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259932	SCV002539743	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259931	SCV002539744	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259929	SCV002539745	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002348145	SCV002653680	likely benign	Inborn genetic diseases	2017-12-18	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.