ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.956A>T (p.Asn319Ile)

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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 RCV004959843 SCV005468910 uncertain significance Inborn genetic diseases 2024-10-27 criteria provided, single submitter clinical testing The p.N319I variant (also known as c.956A>T), located in coding exon 4 of the PIK3CA gene, results from an A to T substitution at nucleotide position 956. The asparagine at codon 319 is replaced by isoleucine, an amino acid with dissimilar 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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