ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.4361A>C (p.Asp1454Ala)

gnomAD frequency: 0.00001  dbSNP: rs779110995
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000703518 SCV000832421 uncertain significance DOCK2 deficiency 2022-07-23 criteria provided, single submitter clinical testing This sequence change replaces aspartic acid, which is acidic and polar, with alanine, which is neutral and non-polar, at codon 1454 of the DOCK2 protein (p.Asp1454Ala). This variant is present in population databases (rs779110995, gnomAD 0.002%). 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: 580078). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.

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