ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5420A>G (p.Asp1807Gly)

dbSNP: rs863224545
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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 RCV000199146 SCV002238108 uncertain significance Familial adenomatous polyposis 1 2015-05-16 criteria provided, single submitter clinical testing In summary, this is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C15"). This variant has not been published in the literature and is not present in population databases. This sequence change replaces aspartic acid with glycine at codon 1807 of the APC protein (p.Asp1807Gly). The aspartic acid residue is highly conserved and there is a moderate physicochemical difference between aspartic acid and glycine.
Baylor Genetics RCV000199146 SCV005052407 uncertain significance Familial adenomatous polyposis 1 2023-12-07 criteria provided, single submitter clinical testing

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