Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV000469080 | SCV000548329 | uncertain significance | Xeroderma pigmentosum, group F; Cockayne syndrome; Fanconi anemia complementation group Q | 2022-10-29 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 408564). This variant has not been reported in the literature in individuals affected with ERCC4-related conditions. This variant is present in population databases (rs752193295, gnomAD 0.003%). This sequence change affects codon 404 of the ERCC4 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ERCC4 protein. It affects a nucleotide within the consensus splice site. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. 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. |