ClinVar Miner

Submissions for variant NM_012156.2(EPB41L1):c.1286G>A (p.Arg429His)

gnomAD frequency: 0.00001  dbSNP: rs761212463
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
Genetic Services Laboratory, University of Chicago RCV000502097 SCV000594564 likely benign not specified 2016-06-27 criteria provided, single submitter clinical testing
Ambry Genetics RCV000502097 SCV003988234 uncertain significance not specified 2023-04-17 criteria provided, single submitter clinical testing The c.1286G>A (p.R429H) alteration is located in exon 11 (coding exon 10) of the EPB41L1 gene. This alteration results from a G to A substitution at nucleotide position 1286, causing the arginine (R) at amino acid position 429 to be replaced by a histidine (H). 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.