ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.2452del (p.Gln818fs)

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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 RCV003340917 SCV004047766 pathogenic Combined immunodeficiency due to DOCK8 deficiency criteria provided, single submitter clinical testing The frame shift c.2452del (p.Gln818SerfsTer20) homozygous variant in DOCK8 has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. This variant causes a frameshift starting with codon Glutamine 818, changes this amino acid to Serine residue, and creates a premature Stop codon at position 20 of the new reading frame, denoted p.Gln818SerfsTer20. This variant is predicted to cause loss of normal protein function through protein truncation. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Pathogenic.

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