Total submissions: 4
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. |
Ce |
RCV001090262 | SCV001245696 | likely pathogenic | not provided | 2019-11-01 | criteria provided, single submitter | clinical testing | |
Institute of Human Genetics, |
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 |