Submissions for variant NM_000702.4(ATP1A2):c.1666A>T (p.Asn556Tyr)

gnomAD frequency: 0.00019  dbSNP: rs141467566

Total submissions: 6

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Eurofins Ntd Llc (ga)	RCV000724781	SCV000225804	uncertain significance	not provided	2015-05-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000724781	SCV000240340	likely benign	not provided	2021-03-13	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000400047	SCV000349900	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.
Illumina Laboratory Services, Illumina	RCV001093896	SCV000349901	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000296463	SCV000824605	likely benign	Familial hemiplegic migraine	2025-01-29	criteria provided, single submitter	clinical testing
CeGaT Center for Human Genetics Tuebingen	RCV000724781	SCV001748176	uncertain significance	not provided	2021-02-01	criteria provided, single submitter	clinical testing