ClinVar Miner

Submissions for variant NM_001288772.2(PIK3C2G):c.2714T>G (p.Leu905Arg)

gnomAD frequency: 0.00009  dbSNP: rs387907449
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV004018977 SCV003739628 uncertain significance not specified 2022-01-31 criteria provided, single submitter clinical testing The c.2591T>G (p.L864R) alteration is located in exon 19 (coding exon 18) of the PIK3C2G gene. This alteration results from a T to G substitution at nucleotide position 2591, causing the leucine (L) at amino acid position 864 to be replaced by an arginine (R). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
Martin Pollak Laboratory, Beth Israel Deaconess Medical Center RCV000054716 SCV000077406 unknown not provided no assertion criteria provided not provided Converted during submission to Uncertain significance.

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