ClinVar Miner

Submissions for variant NM_022336.4(EDAR):c.292C>T (p.Arg98Trp)

dbSNP: rs557166582
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000639389 SCV000760962 pathogenic Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome 2023-11-13 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 98 of the EDAR protein (p.Arg98Trp). This variant is present in population databases (rs557166582, gnomAD 0.0009%). This missense change has been observed in individual(s) with clinical features of ectodermal dysplasia (PMID: 22032522; Invitae). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 532549). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt EDAR protein function with a positive predictive value of 80%. For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001090262 SCV001245696 likely pathogenic not provided 2019-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253683 SCV001429529 pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive 2017-06-13 criteria provided, single submitter clinical testing This variant was identified as homozygous
Suma Genomics RCV001253683 SCV001653497 likely pathogenic Ectodermal dysplasia 10B, hypohidrotic/hair/tooth type, autosomal recessive criteria provided, single submitter clinical testing

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.