Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Centre for Mendelian Genomics, |
RCV000626808 | SCV000747511 | pathogenic | Ectodermal dysplasia | 2017-01-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV000024599 | SCV001577431 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2022-02-04 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Arg276 amino acid residue in EDA. Other variant(s) that disrupt this residue have been determined to be pathogenic (Invitae). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. 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: 31908). This missense change has been observed in individuals with clinical features of, or diagnosis of, ectodermal dysplasia (PMID: 19921643, 21357618; Invitae). It has also been observed to segregate with disease in related individuals. 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 276 of the EDA protein (p.Arg276Cys). |
Ce |
RCV002262574 | SCV002546179 | likely pathogenic | not provided | 2022-04-01 | criteria provided, single submitter | clinical testing | EDA: PM1, PM2, PS4:Moderate, PP4 |
OMIM | RCV000024599 | SCV000045908 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2009-12-01 | no assertion criteria provided | literature only |