ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5455_5458dup (p.Thr1820fs)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV003338911 SCV004047295 likely pathogenic Combined immunodeficiency due to DOCK8 deficiency criteria provided, single submitter clinical testing The frame shift variant c.5455_5458dup (p.Thr1820AsnfsTer6) in DOCK8 gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Thr1820AsnfsTer6 variant is novel (not in any individuals) in gnomAD Exomes and 1000 Genomes. This variant causes a frameshift starting with codon Threonine 1820, changes this amino acid to Asparagine residue, and creates a premature Stop codon at position 6 of the new reading frame, denoted p.Thr1820AsnfsTer6. Loss of function variants have been previously reported to be disease causing. For these reasons, this variant has been classified as Likely Pathogenic.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.