Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV003808246 | SCV004593606 | pathogenic | Ectodermal dysplasia 10A, hypohidrotic/hair/nail type, autosomal dominant; Autosomal recessive hypohidrotic ectodermal dysplasia syndrome | 2023-02-20 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). This sequence change results in a frameshift in the EDAR gene (p.Ser407Argfs*93). While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 42 amino acid(s) of the EDAR protein and extend the protein by 50 additional amino acid residues. This variant has not been reported in the literature in individuals affected with EDAR-related conditions. This variant disrupts a region of the EDAR protein in which other variant(s) (p.Glu433*) have been determined to be pathogenic (Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |