ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2797T>C (p.Cys933Arg)

gnomAD frequency: 0.00001  dbSNP: rs1940982855
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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 RCV004503855 SCV005006154 uncertain significance not specified 2023-12-13 criteria provided, single submitter clinical testing The c.2674T>C (p.C892R) alteration is located in exon 20 (coding exon 19) of the PIK3C2G gene. This alteration results from a T to C substitution at nucleotide position 2674, causing the cysteine (C) at amino acid position 892 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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