Total submissions: 2
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Genetic Services Laboratory, |
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. |