ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3599G>A (p.Arg1200His)

gnomAD frequency: 0.00004  dbSNP: rs373428643
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Blueprint Genetics RCV000788169 SCV000927197 uncertain significance not provided 2017-03-08 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001873215 SCV002156916 uncertain significance DOCK2 deficiency 2023-10-03 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with histidine, which is basic and polar, at codon 1200 of the DOCK2 protein (p.Arg1200His). This variant is present in population databases (rs373428643, gnomAD 0.01%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 636370). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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 RCV004027362 SCV004860255 uncertain significance Inborn genetic diseases 2023-12-11 criteria provided, single submitter clinical testing The c.3599G>A (p.R1200H) alteration is located in exon 35 (coding exon 35) of the DOCK2 gene. This alteration results from a G to A substitution at nucleotide position 3599, causing the arginine (R) at amino acid position 1200 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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