ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2791G>A (p.Asp931Asn)

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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 RCV004648220 SCV005153673 uncertain significance not specified 2024-04-08 criteria provided, single submitter clinical testing The c.2668G>A (p.D890N) alteration is located in exon 19 (coding exon 18) of the PIK3C2G gene. This alteration results from a G to A substitution at nucleotide position 2668, causing the aspartic acid (D) at amino acid position 890 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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