ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.1453G>C (p.Glu485Gln)

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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 RCV004648223 SCV005153683 uncertain significance not specified 2024-06-17 criteria provided, single submitter clinical testing The c.1453G>C (p.E485Q) alteration is located in exon 11 (coding exon 10) of the PIK3C2G gene. This alteration results from a G to C substitution at nucleotide position 1453, causing the glutamic acid (E) at amino acid position 485 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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