ClinVar Miner

Submissions for variant NM_020433.5(JPH2):c.880G>A (p.Glu294Lys)

gnomAD frequency: 0.00001  dbSNP: rs763677478
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004093997 SCV003559666 uncertain significance Cardiovascular phenotype 2021-09-21 criteria provided, single submitter clinical testing The c.880G>A (p.E294K) alteration is located in exon 2 (coding exon 2) of the JPH2 gene. This alteration results from a G to A substitution at nucleotide position 880, causing the glutamic acid (E) at amino acid position 294 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.