ClinVar Miner

Submissions for variant NM_006420.3(ARFGEF2):c.1852A>G (p.Met618Val)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV003408781 SCV004115621 uncertain significance ARFGEF2-related disorder 2023-04-27 criteria provided, single submitter clinical testing The ARFGEF2 c.1852A>G variant is predicted to result in the amino acid substitution p.Met618Val. To our knowledge, this variant has not been reported in the literature. This variant is reported in 0.0062% of alleles in individuals of African descent in gnomAD (http://gnomad.broadinstitute.org/variant/20-47592630-A-G). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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