ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.360G>A (p.Met120Ile)

gnomAD frequency: 0.00001  dbSNP: rs752809346
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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 RCV000820377 SCV000961086 uncertain significance DOCK2 deficiency 2022-07-25 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with isoleucine, which is neutral and non-polar, at codon 120 of the DOCK2 protein (p.Met120Ile). This variant is present in population databases (rs752809346, gnomAD 0.0009%). 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: 662674). 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.
PreventionGenetics, part of Exact Sciences RCV003396443 SCV004104733 uncertain significance DOCK2-related disorder 2023-01-19 criteria provided, single submitter clinical testing The DOCK2 c.360G>A variant is predicted to result in the amino acid substitution p.Met120Ile. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/5-169101339-G-A). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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