ClinVar Miner

Submissions for variant NM_004208.4(AIFM1):c.1352G>A (p.Arg451Gln)

dbSNP: rs863225431
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
GeneDx RCV002254916 SCV002526151 likely pathogenic not provided 2022-09-29 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 33715390, 33035389, 34356047, 25986071, 28967629, 32684920, 28888069, 35994922, 28299359, 29605508)
OMIM RCV000202363 SCV000257352 pathogenic Deafness, X-linked 5 2015-08-01 no assertion criteria provided literature only

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.