Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV004844504 | SCV005468846 | uncertain significance | not specified | 2024-08-12 | criteria provided, single submitter | clinical testing | The c.2582T>C (p.I861T) alteration is located in exon 19 (coding exon 18) of the PIK3C2G gene. This alteration results from a T to C substitution at nucleotide position 2582, causing the isoleucine (I) at amino acid position 861 to be replaced by a threonine (T). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |