ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6781C>G (p.Pro2261Ala)

dbSNP: rs1370948333
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004564288 SCV000817332 uncertain significance Familial adenomatous polyposis 1 2022-01-28 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with alanine, which is neutral and non-polar, at codon 2261 of the APC protein (p.Pro2261Ala). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 569121). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Tolerated"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). 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.
Ambry Genetics RCV002360731 SCV002666239 uncertain significance Hereditary cancer-predisposing syndrome 2022-03-31 criteria provided, single submitter clinical testing The p.P2261A variant (also known as c.6781C>G), located in coding exon 15 of the APC gene, results from a C to G substitution at nucleotide position 6781. The proline at codon 2261 is replaced by alanine, an amino acid with highly similar properties. This amino acid position is conserved. 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.
All of Us Research Program, National Institutes of Health RCV004004299 SCV004837638 uncertain significance Classic or attenuated familial adenomatous polyposis 2023-11-30 criteria provided, single submitter clinical testing

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