ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5404G>A (p.Glu1802Lys)

dbSNP: rs756465306
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001179531 SCV001344206 uncertain significance Hereditary cancer-predisposing syndrome 2019-05-29 criteria provided, single submitter clinical testing
Baylor Genetics RCV001336068 SCV001529362 uncertain significance Familial adenomatous polyposis 1 2018-02-16 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV003650622 SCV002114532 uncertain significance Familial adenomatous polyposis 1 2022-05-15 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with lysine, which is basic and polar, at codon 1802 of the APC protein (p.Glu1802Lys). This variant is present in population databases (rs756465306, gnomAD 0.003%). 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: 920674). 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.

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