Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV000692210 | SCV000820022 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2022-06-17 | criteria provided, single submitter | clinical testing | Experimental studies have shown that this missense change affects EDA function (PMID: 27144394). 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 EDA protein function. ClinVar contains an entry for this variant (Variation ID: 253054). This missense change has been observed in individuals with non-syndromic oligodontia (PMID: 19278982; Invitae). This variant is not present in population databases (gnomAD no frequency). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 289 of the EDA protein (p.Arg289Cys). This variant disrupts the p.Arg289 amino acid residue in EDA. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 26753551; Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Medical Molecular Genetics Department, |
RCV000692210 | SCV001480047 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2021-02-13 | criteria provided, single submitter | research | |
| OMIM | RCV000239506 | SCV000297843 | pathogenic | Tooth agenesis, selective, X-linked, 1 | 2016-08-17 | no assertion criteria provided | literature only |