ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3056C>G (p.Thr1019Arg)

dbSNP: rs368028175
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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 RCV001231806 SCV001404338 uncertain significance DOCK2 deficiency 2022-08-17 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 958609). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces threonine, which is neutral and polar, with arginine, which is basic and polar, at codon 1019 of the DOCK2 protein (p.Thr1019Arg).
Ambry Genetics RCV002563766 SCV003550698 uncertain significance Inborn genetic diseases 2022-11-08 criteria provided, single submitter clinical testing The c.3056C>G (p.T1019R) alteration is located in exon 30 (coding exon 30) of the DOCK2 gene. This alteration results from a C to G substitution at nucleotide position 3056, causing the threonine (T) at amino acid position 1019 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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