ClinVar Miner

Submissions for variant NM_031889.3(ENAM):c.1259_1260insAG (p.Pro422fs) (rs587776588)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
OMIM RCV000004460 SCV000024633 pathogenic Amelogenesis imperfecta, type IC 2007-03-01 no assertion criteria provided literature only
OMIM RCV000144087 SCV000189167 pathogenic Amelogenesis imperfecta - hypoplastic autosomal dominant - local 2007-03-01 no assertion criteria provided literature only
Division of Human Genetics,Children's Hospital of Philadelphia RCV000004460 SCV000238460 likely pathogenic Amelogenesis imperfecta, type IC 2014-07-31 no assertion criteria provided research The ENAM variant (c.1259_1260insAG,p.Pro422Valfs*27) identified in this patient is a frameshift variant considered to be likely pathogenic (Hart et al. 2003, PMID: 14684688 ; Wright et al. 2011, PMID: 21597265) and not associated with the autosomal dominant amelogenesis imperfecta type 1B (MIM:104500). Carriers of this condition have been reported to have localized enamel defects: pitted or grooved teeth, or small and discolored teeth that are prone to premature wearing.

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.