ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.3112T>C (p.Trp1038Arg)

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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 RCV005389394 SCV006045606 uncertain significance not specified 2025-01-20 criteria provided, single submitter clinical testing The c.2989T>C (p.W997R) alteration is located in exon 22 (coding exon 21) of the PIK3C2G gene. This alteration results from a T to C substitution at nucleotide position 2989, causing the tryptophan (W) at amino acid position 997 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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