ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.5107G>C (p.Glu1703Gln)

gnomAD frequency: 0.00005  dbSNP: rs543611054
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000512867 SCV000609047 uncertain significance not provided 2017-04-01 criteria provided, single submitter clinical testing
GeneDx RCV000512867 SCV002030996 uncertain significance not provided 2021-06-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 26582918, 27535533)

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