ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2207T>G (p.Val736Gly)

dbSNP: rs766847142
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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 RCV002425805 SCV002730789 uncertain significance Inborn genetic diseases 2022-03-01 criteria provided, single submitter clinical testing The p.V736G variant (also known as c.2207T>G), located in coding exon 14 of the PIK3CA gene, results from a T to G substitution at nucleotide position 2207. The valine at codon 736 is replaced by glycine, an amino acid with dissimilar properties. This amino acid position is conserved. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.

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