ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2635G>A (p.Val879Ile)

gnomAD frequency: 0.00014  dbSNP: rs150884555
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001062688 SCV001227503 uncertain significance DOCK2 deficiency 2022-08-16 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 879 of the DOCK2 protein (p.Val879Ile). This variant is present in population databases (rs150884555, gnomAD 0.2%). 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: 857078). 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: "Deleterious"; PolyPhen-2: "Benign"; 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.
Ambry Genetics RCV002555813 SCV003759856 uncertain significance Inborn genetic diseases 2021-11-05 criteria provided, single submitter clinical testing The c.2635G>A (p.V879I) 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 2635, causing the valine (V) at amino acid position 879 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Revvity Omics, Revvity RCV001062688 SCV003830538 uncertain significance DOCK2 deficiency 2020-02-19 criteria provided, single submitter clinical testing

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