ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7032A>C (p.Gln2344His)

dbSNP: rs753728632
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002538058 SCV000949771 uncertain significance Familial adenomatous polyposis 1 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 2344 of the APC protein (p.Gln2344His). The glutamine residue is highly conserved and there is a small physicochemical difference between glutamine and histidine. This variant is not present in population databases (ExAC no frequency). This variant has not been reported in the literature in individuals affected with APC-related conditions. 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: "Probably 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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