ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.4063G>A (p.Glu1355Lys)

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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 RCV004850443 SCV005473565 uncertain significance not specified 2024-08-19 criteria provided, single submitter clinical testing The c.3940G>A (p.E1314K) alteration is located in exon 29 (coding exon 28) of the PIK3C2G gene. This alteration results from a G to A substitution at nucleotide position 3940, causing the glutamic acid (E) at amino acid position 1314 to be replaced by a lysine (K). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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