ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3343G>T (p.Val1115Leu)

dbSNP: rs763392909
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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 RCV003773364 SCV002290893 uncertain significance Familial adenomatous polyposis 1 2021-01-28 criteria provided, single submitter clinical testing This sequence change replaces valine with leucine at codon 1115 of the APC protein (p.Val1115Leu). The valine residue is moderately conserved and there is a small physicochemical difference between valine and leucine. 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 (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with APC-related conditions.

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