ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.3034C>T (p.Arg1012Cys)

gnomAD frequency: 0.00001  dbSNP: rs758071330
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001768512 SCV001992278 uncertain significance not provided 2019-05-01 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; 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
Genetic Services Laboratory, University of Chicago RCV001821978 SCV002066213 uncertain significance not specified 2018-01-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV003289070 SCV003953766 uncertain significance Inborn genetic diseases 2023-06-02 criteria provided, single submitter clinical testing The c.3034C>T (p.R1012C) alteration is located in exon 22 (coding exon 22) of the ARFGEF2 gene. This alteration results from a C to T substitution at nucleotide position 3034, causing the arginine (R) at amino acid position 1012 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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