ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.736A>G (p.Asn246Asp) (rs764917849)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000717274 SCV000848123 uncertain significance Familial hemiplegic migraine 2016-10-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
GeneDx RCV000519514 SCV000621990 uncertain significance not provided 2017-10-30 criteria provided, single submitter clinical testing The N246D variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The N246D variant is observed in 1/15288 (0.007%) alleles from individuals of African background (Lek et al., 2016). The N246D variant is a semi-conservative amino acid substitution, which may impact secondary protein structure as these residues differ in some properties. This substitution occurs at a position that is conserved across species; however, Asparagine is observed at this position in evolution. In silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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.