Total submissions: 1
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Ambry Genetics | RCV005389390 | SCV006045602 | uncertain significance | not specified | 2024-12-24 | criteria provided, single submitter | clinical testing | The c.2551C>T (p.H851Y) alteration is located in exon 18 (coding exon 17) of the PIK3C2G gene. This alteration results from a C to T substitution at nucleotide position 2551, causing the histidine (H) at amino acid position 851 to be replaced by a tyrosine (Y). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear. |