ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3258C>G (p.His1086Gln)

dbSNP: rs778031876
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV003770796 SCV001518120 uncertain significance Familial adenomatous polyposis 1 2020-04-28 criteria provided, single submitter clinical testing This sequence change replaces histidine with glutamine at codon 1086 of the APC protein (p.His1086Gln). The histidine residue is highly conserved and there is a small physicochemical difference between histidine and glutamine. This variant has not been reported in the literature in individuals with APC-related conditions. This variant is not present in population databases (ExAC no frequency). 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0").

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