ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2873G>A (p.Ser958Asn)

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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 RCV005389392 SCV006045604 uncertain significance not specified 2024-12-28 criteria provided, single submitter clinical testing The c.2750G>A (p.S917N) alteration is located in exon 20 (coding exon 19) of the PIK3C2G gene. This alteration results from a G to A substitution at nucleotide position 2750, causing the serine (S) at amino acid position 917 to be replaced by an asparagine (N). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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