ClinVar Miner

Submissions for variant NM_006218.4(PIK3CA):c.2422C>T (p.Arg808Trp)

gnomAD frequency: 0.00001  dbSNP: rs200671228
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000458886 SCV000541315 uncertain significance Cowden syndrome 2022-11-09 criteria provided, single submitter clinical testing ClinVar contains an entry for this variant (Variation ID: 403912). This variant has not been reported in the literature in individuals affected with PIK3CA-related conditions. The frequency data for this variant in the population databases is considered unreliable, as metrics indicate poor data quality at this position in the gnomAD database. This sequence change replaces arginine, which is basic and polar, with tryptophan, which is neutral and slightly polar, at codon 808 of the PIK3CA protein (p.Arg808Trp). 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 RCV003168725 SCV003877637 uncertain significance Inborn genetic diseases 2023-01-11 criteria provided, single submitter clinical testing The c.2422C>T (p.R808W) alteration is located in exon 17 (coding exon 16) of the PIK3CA gene. This alteration results from a C to T substitution at nucleotide position 2422, causing the arginine (R) at amino acid position 808 to be replaced by a tryptophan (W). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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