ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4078G>A (p.Val1360Met)

gnomAD frequency: 0.00008  dbSNP: rs137922056
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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 RCV001913593 SCV002186643 uncertain significance DOCK2 deficiency 2021-08-14 criteria provided, single submitter clinical testing This sequence change replaces valine with methionine at codon 1360 of the DOCK2 protein (p.Val1360Met). The valine residue is moderately conserved and there is a small physicochemical difference between valine and methionine. This variant is present in population databases (rs137922056, ExAC 0.05%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. 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.
Ambry Genetics RCV002555752 SCV003534599 uncertain significance Inborn genetic diseases 2022-10-25 criteria provided, single submitter clinical testing The c.4078G>A (p.V1360M) alteration is located in exon 41 (coding exon 41) of the DOCK2 gene. This alteration results from a G to A substitution at nucleotide position 4078, causing the valine (V) at amino acid position 1360 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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