ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2902C>T (p.Arg968Cys)

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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 RCV004657199 SCV005153679 uncertain significance not specified 2024-05-10 criteria provided, single submitter clinical testing The c.2779C>T (p.R927C) alteration is located in exon 21 (coding exon 20) of the PIK3C2G gene. This alteration results from a C to T substitution at nucleotide position 2779, causing the arginine (R) at amino acid position 927 to be replaced by a cysteine (C). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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