ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1738G>A (p.Val580Ile)

dbSNP: rs2108410014
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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 RCV002399284 SCV002711292 uncertain significance Inborn genetic diseases 2022-05-07 criteria provided, single submitter clinical testing The p.V580I variant (also known as c.1738G>A), located in coding exon 10 of the PIK3CA gene, results from a G to A substitution at nucleotide position 1738. The valine at codon 580 is replaced by isoleucine, an amino acid with highly similar properties. This amino acid position is conserved. In addition, this alteration is predicted to be tolerated by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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