Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Prevention |
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. |