Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV003367822 | SCV004084399 | uncertain significance | Inborn genetic diseases | 2023-08-04 | criteria provided, single submitter | clinical testing | The c.3172G>A (p.E1058K) alteration is located in exon 23 (coding exon 23) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 3172, causing the glutamic acid (E) at amino acid position 1058 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |