ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1597A>G (p.Lys533Glu)

gnomAD frequency: 0.00005  dbSNP: rs375363462
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000808663 SCV000948777 uncertain significance DOCK2 deficiency 2023-12-14 criteria provided, single submitter clinical testing This sequence change replaces lysine, which is basic and polar, with glutamic acid, which is acidic and polar, at codon 533 of the DOCK2 protein (p.Lys533Glu). This variant is present in population databases (rs375363462, gnomAD 0.009%). 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: 652986). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests 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.
Laboratorio de Genetica e Diagnostico Molecular, Hospital Israelita Albert Einstein RCV002252244 SCV002523070 uncertain significance See cases 2022-03-28 criteria provided, single submitter clinical testing ACMG classification criteria: PM2, BP4
Ambry Genetics RCV002537293 SCV003539929 uncertain significance Inborn genetic diseases 2022-08-08 criteria provided, single submitter clinical testing The c.1597A>G (p.K533E) alteration is located in exon 17 (coding exon 17) of the DOCK2 gene. This alteration results from a A to G substitution at nucleotide position 1597, causing the lysine (K) at amino acid position 533 to be replaced by a glutamic acid (E). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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