Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000548188 | SCV000630031 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2020-08-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gly201Argfs*39) in the EDA gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with hypohidrotic ectodermal dysplasia (PMID: 9736768, 31652981). In at least one individual the variant was observed to be de novo. This variant has also been reported as c.841insC. ClinVar contains an entry for this variant (Variation ID: 458659). Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). For these reasons, this variant has been classified as Pathogenic. |
Prevention |
RCV003905343 | SCV004725617 | pathogenic | EDA-related condition | 2024-01-05 | criteria provided, single submitter | clinical testing | The EDA c.599dupC variant is predicted to result in a frameshift and premature protein termination (p.Gly201Argfs*39). This variant has been reported to be pathogenic for X-linked ectodermal dysplasia (reported as 836/841insC in Bayes et al. 1998. PubMed ID: 9736768; reported as c.594_595insC; Gly201Argfs*39 in Parveen et al. 2019. PubMed ID: 31652981). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. Frameshift variants in EDA are expected to be pathogenic. This variant is interpreted as pathogenic. |