Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ce |
RCV001092988 | SCV001249750 | likely pathogenic | not provided | 2019-08-01 | criteria provided, single submitter | clinical testing | |
Invitae | RCV003763807 | SCV002170995 | pathogenic | Autosomal recessive hyper-IgE syndrome | 2022-10-25 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 872498). This premature translational stop signal has been observed in individual(s) with clinical features of Hyper IgE syndrome (PMID: 31242861). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Phe1113Leufs*2) in the DOCK8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in DOCK8 are known to be pathogenic (PMID: 14722525, 19776401). |