ClinVar Miner

Submissions for variant NM_203447.4(DOCK8):c.5845A>G (p.Ile1949Val)

dbSNP: rs1324228204
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001916564 SCV002179615 uncertain significance Combined immunodeficiency due to DOCK8 deficiency 2021-10-22 criteria provided, single submitter clinical testing This sequence change replaces isoleucine with valine at codon 1949 of the DOCK8 protein (p.Ile1949Val). The isoleucine residue is highly conserved and there is a small physicochemical difference between isoleucine and valine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with DOCK8-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
PreventionGenetics, part of Exact Sciences RCV003401872 SCV004112669 uncertain significance DOCK8-related disorder 2023-09-07 criteria provided, single submitter clinical testing The DOCK8 c.5845A>G variant is predicted to result in the amino acid substitution p.Ile1949Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0033% of alleles in individuals of South Asian descent in gnomAD (http://gnomad.broadinstitute.org/variant/9-449811-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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