Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004503861 | SCV005006160 | uncertain significance | not specified | 2023-10-25 | criteria provided, single submitter | clinical testing | The c.455A>G (p.D152G) alteration is located in exon 2 (coding exon 1) of the PIK3C2G gene. This alteration results from a A to G substitution at nucleotide position 455, causing the aspartic acid (D) at amino acid position 152 to be replaced by a glycine (G). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |