ClinVar Miner

Submissions for variant NM_004946.3(DOCK2):c.2638C>A (p.Leu880Met)

gnomAD frequency: 0.00060  dbSNP: rs112062072
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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 RCV000653072 SCV000774946 uncertain significance DOCK2 deficiency 2024-01-11 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with methionine, which is neutral and non-polar, at codon 880 of the DOCK2 protein (p.Leu880Met). This variant is present in population databases (rs112062072, gnomAD 0.08%). 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: 542612). Algorithms developed to predict the effect of missense changes on protein structure and function output the following: SIFT: "Not Available"; PolyPhen-2: "Benign"; Align-GVGD: "Not Available". 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.
CeGaT Center for Human Genetics Tuebingen RCV003457733 SCV004185322 likely benign not provided 2023-11-01 criteria provided, single submitter clinical testing DOCK2: BP4

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