ClinVar Miner

Submissions for variant NM_031889.3(ENAM):c.92T>G (p.Leu31Arg)

dbSNP: rs1060499539
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
Leeds Amelogenesis Imperfecta Research Group, University of Leeds RCV000449635 SCV000328938 likely pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local 2016-05-11 no assertion criteria provided research Variant identified in 5 families with amelogenesis imperfecta, variant segregates with phenotype in all cases. Pathogenicity predictions by SIFT, Polyphen-2 (HumVar), Mutation Taster, CADD v1.3 and Grantham score all suggest that the NM_031889.2:c.92T>G substitution may be pathogenic. The affected residue lies within the signal peptide sequence of ENAM.
OMIM RCV000449635 SCV000588156 pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local 2017-08-03 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.