ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.3339del (p.Phe1113fs)

dbSNP: rs748134881
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen 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).

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