ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8181G>C (p.Gln2727His) (rs756467505)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000616178 SCV000712642 uncertain significance not specified 2016-11-25 criteria provided, single submitter clinical testing The p.Gln2727His variant in APC has not been previously reported in individuals with APC-associated cancer and was absent from large population studies. Computa tional prediction tools and conservation analysis do not provide strong support for or against an impact to the protein. In summary, the clinical significance o f the p.Gln2727His variant is uncertain.
Invitae RCV000810831 SCV000951067 uncertain significance Familial adenomatous polyposis 1 2018-12-28 criteria provided, single submitter clinical testing This sequence change replaces glutamine with histidine at codon 2727 of the APC protein (p.Gln2727His). 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 with APC-related conditions. ClinVar contains an entry for this variant (Variation ID: 505436). 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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