Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Gene |
RCV000487168 | SCV000564954 | likely pathogenic | not provided | 2016-03-09 | criteria provided, single submitter | clinical testing | The c.612_629del18 variant in the EDA1 gene is an in-frame deletion that results in the loss of residues Isoleucine 205 through Glycine 210. The c.612_629del18 variant has been reported (as c.612-619del) as a hemizygous variant in a child diagnosed with non-syndromic tooth agenesis (Arte et al., 2013). The variant was also reported to have arisen de novo (Arte et al., 2013). The c.612_629del18 variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This deletion results in the loss of two residues that are conserved in mammals and four residues that are conserved conserved across species. Therefore, this variant is likely pathogenic; however, the possibility that it is benign cannot be excluded. |
Invitae | RCV000805136 | SCV000945081 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2023-08-09 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. This variant disrupts the p.Pro206 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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. ClinVar contains an entry for this variant (Variation ID: 418170). This variant has been observed in individual(s) with clinical features of ectodermal dysplasia and non-syndromic tooth agenesis (PMID: 23991204; Invitae). In at least one individual the variant was observed to be de novo. This variant is present in population databases (no rsID available, gnomAD 0.005%). This variant, c.612_629del, results in the deletion of 6 amino acid(s) of the EDA protein (p.Ile205_Gly210del), but otherwise preserves the integrity of the reading frame. |
Molecular Diagnostics Laboratory, |
RCV000805136 | SCV001142706 | likely pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2019-05-16 | criteria provided, single submitter | clinical testing |