ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3745T>C (p.Trp1249Arg)

gnomAD frequency: 0.00009  dbSNP: rs139639543
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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 RCV001864634 SCV002147039 uncertain significance DOCK2 deficiency 2020-12-11 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with DOCK2-related conditions. 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 is present in population databases (rs139639543, ExAC 0.02%). This sequence change replaces tryptophan with arginine at codon 1249 of the DOCK2 protein (p.Trp1249Arg). The tryptophan residue is moderately conserved and there is a moderate physicochemical difference between tryptophan and arginine.
Ambry Genetics RCV004616816 SCV005112129 uncertain significance Inborn genetic diseases 2024-04-23 criteria provided, single submitter clinical testing The c.3745T>C (p.W1249R) alteration is located in exon 37 (coding exon 37) of the DOCK2 gene. This alteration results from a T to C substitution at nucleotide position 3745, causing the tryptophan (W) at amino acid position 1249 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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