Submissions for variant NM_000702.4(ATP1A2):c.340G>A (p.Gly114Ser)

gnomAD frequency: 0.00071  dbSNP: rs116711766

Total submissions: 16

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000116454	SCV000150379	likely benign	not specified	2014-01-02	criteria provided, single submitter	clinical testing
Eurofins Ntd Llc (ga)	RCV000116454	SCV000230129	benign	not specified	2017-09-20	criteria provided, single submitter	clinical testing
GeneDx	RCV000513747	SCV000240375	benign	not provided	2019-01-08	criteria provided, single submitter	clinical testing
Invitae	RCV000463966	SCV000556872	likely benign	Familial hemiplegic migraine	2024-01-21	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000513747	SCV000610400	likely benign	not provided	2017-06-02	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000116454	SCV000612445	benign	not specified	2017-03-07	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002313858	SCV000847987	benign	Inborn genetic diseases	2016-08-05	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.
Illumina Laboratory Services, Illumina	RCV001099608	SCV001256079	likely benign	Migraine, familial hemiplegic, 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Illumina Laboratory Services, Illumina	RCV001099609	SCV001256080	benign	Alternating hemiplegia of childhood 1	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.
Genome-Nilou Lab	RCV001099609	SCV002539698	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259633	SCV002539699	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259632	SCV002539700	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001099608	SCV002539701	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing
Fulgent Genetics, Fulgent Genetics	RCV002505039	SCV002811908	likely benign	Alternating hemiplegia of childhood 1; Migraine, familial hemiplegic, 2; Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies; Developmental and epileptic encephalopathy 98	2021-07-14	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000513747	SCV004125071	likely benign	not provided	2023-04-01	criteria provided, single submitter	clinical testing	ATP1A2: BS1
Mayo Clinic Laboratories, Mayo Clinic	RCV000513747	SCV004224696	uncertain significance	not provided	2022-06-29	criteria provided, single submitter	clinical testing	BS1