Total submissions: 2
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Invitae | RCV002628266 | SCV003508577 | uncertain significance | not provided | 2022-05-25 | 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 missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with ARFGEF2-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.003%). This sequence change replaces arginine, which is basic and polar, with glutamine, which is neutral and polar, at codon 1200 of the ARFGEF2 protein (p.Arg1200Gln). |
| Ambry Genetics | RCV004070562 | SCV004905886 | uncertain significance | Inborn genetic diseases | 2023-10-30 | criteria provided, single submitter | clinical testing | The c.3599G>A (p.R1200Q) alteration is located in exon 27 (coding exon 27) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 3599, causing the arginine (R) at amino acid position 1200 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |