Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004420273 | SCV004905878 | uncertain significance | Inborn genetic diseases | 2024-03-07 | criteria provided, single submitter | clinical testing | The c.1954G>A (p.E652K) alteration is located in exon 14 (coding exon 14) of the ARFGEF2 gene. This alteration results from a G to A substitution at nucleotide position 1954, causing the glutamic acid (E) at amino acid position 652 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |