ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3986A>G (p.Tyr1329Cys)

gnomAD frequency: 0.00001  dbSNP: rs766635884
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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 RCV000653074 SCV000774948 uncertain significance DOCK2 deficiency 2017-10-12 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with cysteine at codon 1329 of the DOCK2 protein (p.Tyr1329Cys). The tyrosine residue is highly conserved and there is a large physicochemical difference between tyrosine and cysteine. This variant is present in population databases (rs766635884, ExAC 0.003%). 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. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals with DOCK2-related disease.
Revvity Omics, Revvity RCV000653074 SCV003830539 uncertain significance DOCK2 deficiency 2022-07-24 criteria provided, single submitter clinical testing

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