ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.1288C>G (p.Leu430Val)

gnomAD frequency: 0.00004  dbSNP: rs370264550
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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 RCV000653075 SCV000774949 uncertain significance DOCK2 deficiency 2022-06-04 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with valine, which is neutral and non-polar, at codon 430 of the DOCK2 protein (p.Leu430Val). This variant is present in population databases (rs370264550, gnomAD 0.005%). 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: 542615). 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: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). 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.
GenomeConnect - Invitae Patient Insights Network RCV000653075 SCV001749550 not provided DOCK2 deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-27-2020 by Invitae. GenomeConnect-Invitae Patient Insights Network assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. Registry team members make no attempt to reinterpret the clinical significance of the variant. Phenotypic details are available under supporting information.
GenomeConnect, ClinGen RCV000653075 SCV002075272 not provided DOCK2 deficiency no assertion provided phenotyping only Variant interpreted as Uncertain significance and reported on 04-27-2020 by Lab or GTR ID 500031. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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