ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.25T>A (p.Tyr9Asn) (rs55858252)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 7
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000436643 SCV000240351 benign not provided 2019-12-30 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 18957371, 27445835, 18513263, 23954377, 20981092, 17877748, 21533730, 27226003)
Invitae RCV000229197 SCV000285580 likely benign Familial hemiplegic migraine 2020-12-08 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000186782 SCV000337859 benign not specified 2015-12-09 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001093728 SCV000349866 likely benign Familial hemiplegic migraine type 2 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000299488 SCV000349867 likely benign Alternating hemiplegia of childhood 1 2017-04-27 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000436643 SCV000511421 likely benign not provided 2016-11-07 criteria provided, single submitter clinical testing Converted during submission to Likely benign.
Ambry Genetics RCV000229197 SCV000848289 benign Familial hemiplegic migraine 2017-11-16 criteria provided, single submitter clinical testing In silico models in agreement (benign);Intact protein function observed in appropriate functional assay(s);Other data supporting benign classification;Subpopulation frequency in support of benign classification

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.