ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.2015G>A (p.Gly672Glu)

gnomAD frequency: 0.00004  dbSNP: rs373933885
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000192944 SCV000246462 uncertain significance not specified 2014-10-09 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000991544 SCV001143053 uncertain significance not provided 2019-07-03 criteria provided, single submitter clinical testing
Invitae RCV000991544 SCV003272860 uncertain significance not provided 2022-05-07 criteria provided, single submitter clinical testing 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. 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 C0"). ClinVar contains an entry for this variant (Variation ID: 210230). This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. This variant is present in population databases (rs373933885, gnomAD 0.009%). This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 672 of the ARFGEF2 protein (p.Gly672Glu).

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