ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4912C>T (p.Arg1638Cys)

gnomAD frequency: 0.00001  dbSNP: rs771330901
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001316242 SCV001506849 uncertain significance DOCK2 deficiency 2022-07-19 criteria provided, single submitter clinical testing 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: "Tolerated"; 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. ClinVar contains an entry for this variant (Variation ID: 1017132). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. This variant is present in population databases (rs771330901, gnomAD 0.02%). This sequence change replaces arginine, which is basic and polar, with cysteine, which is neutral and slightly polar, at codon 1638 of the DOCK2 protein (p.Arg1638Cys).

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