Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004854381 | SCV005490241 | uncertain significance | not specified | 2024-08-01 | criteria provided, single submitter | clinical testing | The c.1090G>A (p.E364K) alteration is located in exon 7 (coding exon 7) of the RASGRF1 gene. This alteration results from a G to A substitution at nucleotide position 1090, causing the glutamic acid (E) at amino acid position 364 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |