Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001221516 | SCV001393565 | uncertain significance | Hypohidrotic X-linked ectodermal dysplasia | 2023-08-17 | criteria provided, single submitter | clinical testing | In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. This sequence change falls in intron 7 of the EDA gene. It does not directly change the encoded amino acid sequence of the EDA protein. RNA analysis indicates that this variant induces altered splicing and likely results in the loss of 2 amino acid residue(s), but is expected to preserve the integrity of the reading-frame. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individual(s) with clinical features of ectodermal dysplasia (PMID: 11279189, 34906502; Invitae). This variant is also known as IVS8+5. ClinVar contains an entry for this variant (Variation ID: 949923). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Studies have shown that this variant results in the activation of a cryptic splice site in exon 8 (PMID: 34906502). |