ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.3056C>T (p.Thr1019Met)

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 RCV002023032 SCV002306231 uncertain significance DOCK2 deficiency 2022-08-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 1019 of the DOCK2 protein (p.Thr1019Met). This variant is present in population databases (rs368028175, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with DOCK2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1512447). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The methionine amino acid residue is found in multiple mammalian species, which suggests that this missense change does not adversely affect protein function. 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 RCV003161218 SCV003888198 uncertain significance Inborn genetic diseases 2023-01-06 criteria provided, single submitter clinical testing The c.3056C>T (p.T1019M) alteration is located in exon 30 (coding exon 30) of the DOCK2 gene. This alteration results from a C to T substitution at nucleotide position 3056, causing the threonine (T) at amino acid position 1019 to be replaced by a methionine (M). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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