ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.454A>G (p.Ile152Val)

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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 RCV003118914 SCV003787530 uncertain significance DOCK2 deficiency 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces isoleucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 152 of the DOCK2 protein (p.Ile152Val). This variant is present in population databases (rs761361714, gnomAD 0.07%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. 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 RCV003162160 SCV003883781 uncertain significance Inborn genetic diseases 2023-02-15 criteria provided, single submitter clinical testing The c.454A>G (p.I152V) alteration is located in exon 6 (coding exon 6) of the DOCK2 gene. This alteration results from a A to G substitution at nucleotide position 454, causing the isoleucine (I) at amino acid position 152 to be replaced by a valine (V). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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