ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2656G>A (p.Val886Ile)

gnomAD frequency: 0.00025  dbSNP: rs199862297
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000692242 SCV000820055 uncertain significance DOCK2 deficiency 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces valine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 886 of the DOCK2 protein (p.Val886Ile). This variant is present in population databases (rs199862297, gnomAD 0.04%). 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: 571183). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". The isoleucine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252217 SCV002523069 uncertain significance See cases 2022-03-28 criteria provided, single submitter clinical testing ACMG classification criteria: BP4
Ambry Genetics RCV004025114 SCV004860253 uncertain significance Inborn genetic diseases 2022-04-27 criteria provided, single submitter clinical testing The c.2656G>A (p.V886I) alteration is located in exon 26 (coding exon 26) of the DOCK2 gene. This alteration results from a G to A substitution at nucleotide position 2656, causing the valine (V) at amino acid position 886 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Breakthrough Genomics, Breakthrough Genomics RCV004692121 SCV005188721 uncertain significance not provided criteria provided, single submitter not provided

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.