ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2425A>G (p.Asn809Asp)

dbSNP: rs1580621960
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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 RCV001015477 SCV001176314 uncertain significance Hereditary cancer-predisposing syndrome 2021-10-27 criteria provided, single submitter clinical testing The p.N809D variant (also known as c.2425A>G), located in coding exon 15 of the APC gene, results from an A to G substitution at nucleotide position 2425. The asparagine at codon 809 is replaced by aspartic acid, an amino acid with highly similar properties. This amino acid position is not 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.
Color Diagnostics, LLC DBA Color Health RCV001015477 SCV001339342 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-30 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003769474 SCV001498792 uncertain significance Familial adenomatous polyposis 1 2021-02-18 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. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 821249). This variant is not present in population databases (ExAC no frequency). This sequence change replaces asparagine with aspartic acid at codon 809 of the APC protein (p.Asn809Asp). The asparagine residue is moderately conserved and there is a small physicochemical difference between asparagine and aspartic acid.
Sema4, Sema4 RCV001015477 SCV002528297 uncertain significance Hereditary cancer-predisposing syndrome 2021-08-23 criteria provided, single submitter curation
Fulgent Genetics, Fulgent Genetics RCV005036288 SCV005667831 uncertain significance Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 2024-03-28 criteria provided, single submitter clinical testing

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