ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7026A>T (p.Leu2342Phe) (rs766086022)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000536203 SCV000647688 uncertain significance Familial adenomatous polyposis 1 2018-12-04 criteria provided, single submitter clinical testing This sequence change replaces leucine with phenylalanine at codon 2342 of the APC protein (p.Leu2342Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine. 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 disease. ClinVar contains an entry for this variant (Variation ID: 470074). 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. 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.
Ambry Genetics RCV000568988 SCV000667781 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-03 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
3DMed Clinical Laboratory Inc RCV000677748 SCV000803904 uncertain significance Neoplasm of stomach 2017-05-18 criteria provided, single submitter clinical testing

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