Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005389389 | SCV006045601 | uncertain significance | not specified | 2025-01-26 | criteria provided, single submitter | clinical testing | The c.1972G>T (p.A658S) alteration is located in exon 14 (coding exon 13) of the PIK3C2G gene. This alteration results from a G to T substitution at nucleotide position 1972, causing the alanine (A) at amino acid position 658 to be replaced by a serine (S). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |