ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.4626+1G>A

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003448877 SCV004176694 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency 2023-03-01 criteria provided, single submitter clinical testing The invariant splice donor c.4626+1G>A in DOCK8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The c.4626+1G>A variant has allele frequency 0% in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant has not been reported to the ClinVar database. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

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