Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003251969 | SCV003942217 | uncertain significance | Inborn genetic diseases | 2023-05-03 | criteria provided, single submitter | clinical testing | The c.5267G>A (p.R1756Q) alteration is located in exon 39 (coding exon 39) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 5267, causing the arginine (R) at amino acid position 1756 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |