ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3101A>T (p.Glu1034Val)

dbSNP: rs1554084689
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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 RCV004568922 SCV000647426 uncertain significance Familial adenomatous polyposis 1 2017-05-09 criteria provided, single submitter clinical testing In summary, this variant 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with an APC-related disease. This sequence change replaces glutamic acid with valine at codon 1034 of the APC protein (p.Glu1034Val). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and valine.

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