ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2207T>C (p.Leu736Pro)

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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 RCV004648222 SCV005153680 uncertain significance not specified 2024-05-14 criteria provided, single submitter clinical testing The c.2084T>C (p.L695P) alteration is located in exon 15 (coding exon 14) of the PIK3C2G gene. This alteration results from a T to C substitution at nucleotide position 2084, causing the leucine (L) at amino acid position 695 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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