ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6552A>C (p.Glu2184Asp)

dbSNP: rs1580671887
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV001025405 SCV001187586 uncertain significance Hereditary cancer-predisposing syndrome 2019-06-27 criteria provided, single submitter clinical testing The p.E2184D variant (also known as c.6552A>C), located in coding exon 15 of the APC gene, results from an A to C substitution at nucleotide position 6552. The glutamic acid at codon 2184 is replaced by aspartic acid, an amino acid with highly 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. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear.
Labcorp Genetics (formerly Invitae), Labcorp RCV004563717 SCV004324951 uncertain significance Familial adenomatous polyposis 1 2023-09-22 criteria provided, single submitter clinical testing 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. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is not expected to disrupt APC protein function. ClinVar contains an entry for this variant (Variation ID: 826481). This variant has not been reported in the literature in individuals affected with APC-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces glutamic acid, which is acidic and polar, with aspartic acid, which is acidic and polar, at codon 2184 of the APC protein (p.Glu2184Asp).
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV004596393 SCV005090710 uncertain significance not specified 2025-03-04 criteria provided, single submitter clinical testing

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