ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.842C>T (p.Thr281Met)

gnomAD frequency: 0.00001  dbSNP: rs748096915
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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 RCV002022453 SCV002296770 uncertain significance DOCK2 deficiency 2021-04-05 criteria provided, single submitter clinical testing This sequence change replaces threonine with methionine at codon 281 of the DOCK2 protein (p.Thr281Met). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and methionine. 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 are either unavailable or 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 conditions. This variant is present in population databases (rs748096915, ExAC 0.009%).

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