ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2242G>A (p.Val748Ile)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV003354163 SCV004069246 uncertain significance Inborn genetic diseases 2023-07-12 criteria provided, single submitter clinical testing The c.2242G>A (p.V748I) alteration is located in exon 22 (coding exon 22) of the DOCK2 gene. This alteration results from a G to A substitution at nucleotide position 2242, causing the valine (V) at amino acid position 748 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV003588899 SCV004281190 uncertain significance DOCK2 deficiency 2023-02-16 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 748 of the DOCK2 protein (p.Val748Ile). This variant is present in population databases (rs199603412, gnomAD 0.002%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. 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.

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