Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Gene |
RCV000255050 | SCV000321585 | pathogenic | not provided | 2023-09-01 | criteria provided, single submitter | clinical testing | Not observed in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 11343303, 18666859, 21457804, 30192988, 15461765, 35131284, 22446708, 22566850, 30117778, 31129666, 24312213, 11295832, 9683615, 34863015, 26582918, 24077912) |
| Invitae | RCV000011787 | SCV001235748 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2023-12-25 | criteria provided, single submitter | clinical testing | This sequence change replaces alanine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 349 of the EDA protein (p.Ala349Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with ectodermal dysplasia (PMID: 9683615, 15461765). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 11040). 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 with a positive predictive value of 95%. For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV000011787 | SCV000032019 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 1998-08-01 | no assertion criteria provided | literature only |