Submissions for variant NM_000702.4(ATP1A2):c.1125G>A (p.Lys375=)

gnomAD frequency: 0.00323  dbSNP: rs61734526

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000180520	SCV000167100	benign	not specified	2013-05-26	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga)	RCV000180520	SCV000232980	benign	not specified	2014-07-04	criteria provided, single submitter	clinical testing
Invitae	RCV000558580	SCV000632356	benign	Familial hemiplegic migraine	2024-01-27	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000710686	SCV000840970	benign	not provided	2018-05-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002312819	SCV000847725	benign	Inborn genetic diseases	2016-08-29	criteria provided, single submitter	clinical testing	This alteration is classified as 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.
Genome-Nilou Lab	RCV002259652	SCV002539733	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259654	SCV002539734	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259653	SCV002539735	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259651	SCV002539736	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000710686	SCV004125075	benign	not provided	2023-01-01	criteria provided, single submitter	clinical testing	ATP1A2: BP4, BS1, BS2
PreventionGenetics, part of Exact Sciences	RCV003925228	SCV004739711	benign	ATP1A2-related condition	2019-03-25	criteria provided, single submitter	clinical testing	This variant is classified as benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).