ClinVar Miner

Submissions for variant NM_203447.3(DOCK8):c.5481T>C (p.His1827=) (rs1554708887)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000610688 SCV000731528 likely benign not specified 2017-04-03 criteria provided, single submitter clinical testing p.His1827His in exon 42 of DOCK8: This variant is not expected to have clinical significance because it does not alter an amino acid residue and is not located within the splice consensus sequence.
Invitae RCV000817998 SCV000958586 uncertain significance Hyperimmunoglobulin E recurrent infection syndrome, autosomal recessive 2018-11-01 criteria provided, single submitter clinical testing This sequence change affects codon 1827 of the DOCK8 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the DOCK8 protein. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals with DOCK8-related disease. ClinVar contains an entry for this variant (Variation ID: 517309). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. 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.

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