ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.5024G>A (p.Arg1675His)

gnomAD frequency: 0.00004  dbSNP: rs778607741
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000501393 SCV000593310 uncertain significance not specified 2016-02-26 criteria provided, single submitter clinical testing
Mayo Clinic Laboratories, Mayo Clinic RCV001507470 SCV001713055 uncertain significance not provided 2020-03-03 criteria provided, single submitter clinical testing
GeneDx RCV001507470 SCV001997899 uncertain significance not provided 2019-10-14 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV002527198 SCV003752410 uncertain significance Inborn genetic diseases 2021-07-20 criteria provided, single submitter clinical testing The c.5024G>A (p.R1675H) alteration is located in exon 37 (coding exon 37) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 5024, causing the arginine (R) at amino acid position 1675 to be replaced by a histidine (H). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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