ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8258A>G (p.Glu2753Gly)

dbSNP: rs876660649
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000214175 SCV000278255 uncertain significance Hereditary cancer-predisposing syndrome 2024-04-09 criteria provided, single submitter clinical testing The p.E2753G variant (also known as c.8258A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 8258. The glutamic acid at codon 2753 is replaced by glycine, an amino acid with similar properties. This amino acid position is well conserved in available vertebrate species. In addition, in silico predictors for this gene do not accurately predict pathogenicity. Based on the available evidence, the clinical significance of this variant remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV000468899 SCV000552462 uncertain significance Familial adenomatous polyposis 1 2016-04-05 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: "Deleterious"; PolyPhen-2: "Possibly 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 a APC-related disease. This sequence change replaces glutamic acid with glycine at codon 2753 of the APC protein (p.Glu2753Gly). The glutamic acid residue is highly conserved and there is a moderate physicochemical difference between glutamic acid and glycine.
Counsyl RCV000468899 SCV000786033 uncertain significance Familial adenomatous polyposis 1 2018-02-08 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000468899 SCV004019611 uncertain significance Familial adenomatous polyposis 1 2023-02-15 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
All of Us Research Program, National Institutes of Health RCV003998578 SCV004819766 uncertain significance Classic or attenuated familial adenomatous polyposis 2024-09-23 criteria provided, single submitter clinical testing This missense variant replaces glutamic acid with glycine at codon 2753 of the APC protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with APC-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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