ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3629A>T (p.His1210Leu) (rs756346998)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000548626 SCV000647460 uncertain significance Familial adenomatous polyposis 1 2018-09-10 criteria provided, single submitter clinical testing This sequence change replaces histidine with leucine at codon 1210 of the APC protein (p.His1210Leu). The histidine residue is highly conserved and there is a moderate physicochemical difference between histidine and leucine. This variant is present in population databases (rs756346998, ExAC 0.009%). This variant has not been reported in the literature in individuals with APC-related disease. Algorithms developed to predict the effect of missense changes on protein structure and function do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C35"). 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.
Color RCV000582171 SCV000686947 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-18 criteria provided, single submitter clinical testing

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