ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1959G>A (p.Leu653=)

gnomAD frequency: 0.00001  dbSNP: rs200238031
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000504371 SCV000593297 uncertain significance not specified 2016-07-25 criteria provided, single submitter clinical testing
Invitae RCV001851401 SCV002113463 uncertain significance not provided 2022-01-28 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 sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. ClinVar contains an entry for this variant (Variation ID: 434279). This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. This variant is present in population databases (rs200238031, gnomAD 0.007%). This sequence change affects codon 653 of the ARFGEF2 mRNA. It is a 'silent' change, meaning that it does not change the encoded amino acid sequence of the ARFGEF2 protein. It affects a nucleotide within the consensus splice site.

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