ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.3719T>C (p.Leu1240Pro)

dbSNP: rs2498001251
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004357656 SCV004087091 uncertain significance not specified 2023-07-05 criteria provided, single submitter clinical testing The c.3596T>C (p.L1199P) alteration is located in exon 26 (coding exon 25) of the PIK3C2G gene. This alteration results from a T to C substitution at nucleotide position 3596, causing the leucine (L) at amino acid position 1199 to be replaced by a proline (P). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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