ClinVar Miner

Submissions for variant NM_000702.4(ATP1A2):c.194G>T (p.Arg65Leu) (rs187733403)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000723890 SCV000230127 uncertain significance not provided 2015-04-08 criteria provided, single submitter clinical testing
GeneDx RCV000723890 SCV000240353 uncertain significance not provided 2016-05-20 criteria provided, single submitter clinical testing The R65L variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project. The 1000 Genomes Project reports R65L was observed in 4/1008 (0.4%) alleles from individuals of East Asian background. The R65L variant is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. This substitution occurs at a position that is conserved across species. However, in silico analysis is inconsistent in its predictions as to whether or not the variant is 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
Illumina Clinical Services Laboratory,Illumina RCV000333542 SCV000349870 likely benign Alternating hemiplegia of childhood 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000382532 SCV000349871 likely benign Familial hemiplegic migraine 2016-06-14 criteria provided, single submitter clinical testing
Invitae RCV000382532 SCV000756609 benign Familial hemiplegic migraine 2017-12-06 criteria provided, single submitter clinical testing

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.