ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2264G>A (p.Arg755Lys)

gnomAD frequency: 0.00015  dbSNP: rs374637655
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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 RCV004142376 SCV003616167 uncertain significance not specified 2024-10-07 criteria provided, single submitter clinical testing The c.2141G>A (p.R714K) alteration is located in exon 15 (coding exon 14) of the PIK3C2G gene. This alteration results from a G to A substitution at nucleotide position 2141, causing the arginine (R) at amino acid position 714 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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