ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.103G>C (p.Glu35Gln)

dbSNP: rs2108385365
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001889112 SCV002148722 uncertain significance Cowden syndrome 2022-06-18 criteria provided, single submitter clinical testing 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. Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 35 of the PIK3CA protein (p.Glu35Gln).
Ambry Genetics RCV004041377 SCV005006167 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.103G>C (p.E35Q) alteration is located in exon 2 (coding exon 1) of the PIK3CA gene. This alteration results from a G to C substitution at nucleotide position 103, causing the glutamic acid (E) at amino acid position 35 to be replaced by a glutamine (Q). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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