ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.1064A>G (p.Tyr355Cys)

dbSNP: rs2108394261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002033109 SCV002107719 uncertain significance Cowden syndrome 2021-10-27 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, a(n) neutral and polar amino acid, with cysteine, a(n) neutral and slightly polar amino acid, at codon 355 of the PIK3CA protein (p.Tyr355Cys). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Ambry Genetics RCV002406914 SCV002716435 uncertain significance Inborn genetic diseases 2021-11-06 criteria provided, single submitter clinical testing The p.Y355C variant (also known as c.1064A>G), located in coding exon 5 of the PIK3CA gene, results from an A to G substitution at nucleotide position 1064. The tyrosine at codon 355 is replaced by cysteine, an amino acid with highly 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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