ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2545A>G (p.Lys849Glu)

gnomAD frequency: 0.00001  dbSNP: rs773584607
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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 RCV001325206 SCV001516191 uncertain significance DOCK2 deficiency 2022-09-27 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 849 of the DOCK2 protein (p.Lys849Glu). This variant is present in population databases (no rsID available, gnomAD 0.002%). 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: 1024956). 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 RCV003355395 SCV004075603 uncertain significance Inborn genetic diseases 2023-06-23 criteria provided, single submitter clinical testing The c.2545A>G (p.K849E) alteration is located in exon 25 (coding exon 25) of the DOCK2 gene. This alteration results from a A to G substitution at nucleotide position 2545, causing the lysine (K) at amino acid position 849 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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