ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1425G>C (p.Leu475Phe)

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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 RCV005397944 SCV006045643 uncertain significance Inborn genetic diseases 2025-02-23 criteria provided, single submitter clinical testing The p.L475F variant (also known as c.1425G>C), located in coding exon 8 of the PIK3CA gene, results from a G to C substitution at nucleotide position 1425. The leucine at codon 475 is replaced by phenylalanine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, the in silico prediction for this alteration is inconclusive. Based on the available evidence, the clinical significance of this variant remains unclear.

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