ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.1177C>A (p.Leu393Ile)

dbSNP: rs1444567095
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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 RCV004119611 SCV003586416 uncertain significance not specified 2021-11-10 criteria provided, single submitter clinical testing The c.1177C>A (p.L393I) alteration is located in exon 7 (coding exon 6) of the PIK3C2G gene. This alteration results from a C to A substitution at nucleotide position 1177, causing the leucine (L) at amino acid position 393 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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