ClinVar Miner

Submissions for variant NM_000038.6(APC):c.1409G>A (p.Gly470Glu)

dbSNP: rs1561553355
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003534719 SCV000833009 uncertain significance Familial adenomatous polyposis 1 2023-12-27 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with glutamic acid, which is acidic and polar, at codon 470 of the APC protein (p.Gly470Glu). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 580513). 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. 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.
Sema4, Sema4 RCV002256485 SCV002534953 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-31 criteria provided, single submitter curation

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