ClinVar Miner

Submissions for variant NM_004415.4(DSP):c.5051A>G (p.His1684Arg) (rs1135401735)

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
Institute of Molecular Biology and Genetics,Federal Almazov North-West Medical Research Centre RCV000492066 SCV000494277 likely pathogenic Progressive familial heart block 2017-01-29 criteria provided, single submitter research The patient was initially diagnosed with progressive cardiac conduction disorder at the age of 19. He has a familial history of SCD (Patient’s two brothers have sudden deaths at 18 and 19). Besides, his mother has implanted pacemaker due to sick sinus syndrome. Proband's mother and brother harbour the same genetic variant. ECG pattern include polytopic extrasystoles, allorhythmia periods and sinus bradycardia. PMID: 27166992

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.