ClinVar Miner

Submissions for variant NM_001376013.1(EPB41):c.1744dup (p.Thr582fs)

dbSNP: rs2150754040
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
Mayo Clinic Laboratories, Mayo Clinic RCV001507946 SCV001713804 likely pathogenic not provided 2019-09-05 criteria provided, single submitter clinical testing PVS1, PM2
Neuberg Centre For Genomic Medicine, NCGM RCV003339656 SCV004047180 likely pathogenic Elliptocytosis 1 2023-05-20 criteria provided, single submitter clinical testing The observed frameshift c.1744dup(p.Thr582AsnfsTer5) variant in EPB41 gene has not been reported previously as a pathogenic variant nor a benign variant, to our knowledge. The p.Thr582AsnfsTer5 variant is absent in gnomAD Exomes. This variant has been reported to the ClinVar database as Likely Pathogenic. This variant causes a frameshift starting with codon Threonine 582, changes this amino acid to Asparagine residue, and creates a premature Stop codon at position 5 of the new reading frame, denoted p.Thr582AsnfsTer5. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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.