ClinVar Miner

Submissions for variant NM_152309.3(PIK3AP1):c.800A>G (p.Glu267Gly)

gnomAD frequency: 0.00002  dbSNP: rs200224557
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000698538 SCV000827206 uncertain significance Infantile spasms 2023-04-01 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals affected with PIK3AP1-related conditions. This variant is present in population databases (rs200224557, gnomAD 0.01%). This sequence change replaces glutamic acid, which is acidic and polar, with glycine, which is neutral and non-polar, at codon 267 of the PIK3AP1 protein (p.Glu267Gly). ClinVar contains an entry for this variant (Variation ID: 576120). 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. An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive.

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