Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV003064733 | SCV003445250 | pathogenic | Hypohidrotic X-linked ectodermal dysplasia | 2021-12-15 | criteria provided, single submitter | clinical testing | This premature translational stop signal has been observed in individual(s) with ectodermal dysplasia (PMID: 19438931). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Arg20*) in the EDA gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in EDA are known to be pathogenic (PMID: 9683615). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. For these reasons, this variant has been classified as Pathogenic. |