ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5500G>A (p.Val1834Ile) (rs555944438)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000552450 SCV000647592 uncertain significance Familial adenomatous polyposis 1 2018-10-11 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 1834 of the APC protein (p.Val1834Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs555944438, ExAC 0.04%). 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 output the following: SIFT: "Tolerated"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0". The isoleucine amino acid residue is found in multiple mammalian species, suggesting that this missense change does not adversely affect protein function. These predictions have not been confirmed by published functional studies and their clinical significance is uncertain. 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 RCV000584452 SCV000687026 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-26 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000679067 SCV000805434 uncertain significance not provided 2017-07-06 criteria provided, single submitter clinical testing

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