Submissions for variant NM_000702.4(ATP1A2):c.2142C>T (p.Asp714=)

gnomAD frequency: 0.00007  dbSNP: rs139022921

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Invitae	RCV000553268	SCV000632367	likely benign	Familial hemiplegic migraine	2024-01-30	criteria provided, single submitter	clinical testing
GeneDx	RCV000606938	SCV000729952	likely benign	not specified	2018-02-27	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.
Illumina Laboratory Services, Illumina	RCV001099788	SCV001256272	benign	Alternating hemiplegia of childhood 1	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	RCV001099789	SCV001256273	likely benign	Migraine, familial hemiplegic, 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 likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Genome-Nilou Lab	RCV001099788	SCV002539813	benign	Alternating hemiplegia of childhood 1	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259989	SCV002539814	benign	Developmental and epileptic encephalopathy 98	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV002259988	SCV002539815	benign	Fetal akinesia, respiratory insufficiency, microcephaly, polymicrogyria, and dysmorphic facies	2021-12-05	criteria provided, single submitter	clinical testing
Genome-Nilou Lab	RCV001099789	SCV002539816	benign	Migraine, familial hemiplegic, 2	2021-12-05	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002431569	SCV002731153	likely benign	Inborn genetic diseases	2019-10-23	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.