Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003211634 | SCV003893079 | uncertain significance | Inborn genetic diseases | 2023-02-10 | criteria provided, single submitter | clinical testing | The c.4529A>G (p.Q1510R) alteration is located in exon 34 (coding exon 34) of the ARFGEF2 gene. This alteration results from a A to G substitution at nucleotide position 4529, causing the glutamine (Q) at amino acid position 1510 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |