ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1390A>G (p.Ile464Val)

gnomAD frequency: 0.00009  dbSNP: rs372498181
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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 RCV001204926 SCV001376157 uncertain significance DOCK2 deficiency 2021-04-04 criteria provided, single submitter clinical testing This variant is present in population databases (rs372498181, ExAC 0.003%). 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DOCK2-related conditions. This sequence change replaces isoleucine with valine at codon 464 of the DOCK2 protein (p.Ile464Val). The isoleucine residue is moderately conserved and there is a small physicochemical difference between isoleucine and valine.
Ambry Genetics RCV004033631 SCV004860247 uncertain significance Inborn genetic diseases 2023-11-29 criteria provided, single submitter clinical testing The c.1390A>G (p.I464V) alteration is located in exon 15 (coding exon 15) of the DOCK2 gene. This alteration results from a A to G substitution at nucleotide position 1390, causing the isoleucine (I) at amino acid position 464 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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