ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4342G>A (p.Val1448Met)

gnomAD frequency: 0.00002  dbSNP: rs200408270
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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 RCV002019568 SCV002286860 uncertain significance DOCK2 deficiency 2021-09-24 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1448 of the DOCK2 protein (p.Val1448Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs200408270, ExAC 0.006%). This variant has not been reported in the literature in individuals with DOCK2-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: "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.

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