ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2149A>G (p.Met717Val)

dbSNP: rs1580618779
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV004561805 SCV000931183 uncertain significance Familial adenomatous polyposis 1 2020-04-29 criteria provided, single submitter clinical testing This variant has not been reported in the literature in individuals with APC-related disease. 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 are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C0"). This variant is not present in population databases (ExAC no frequency). This sequence change replaces methionine with valine at codon 717 of the APC protein (p.Met717Val). The methionine residue is highly conserved and there is a small physicochemical difference between methionine and valine.
GeneDx RCV003327462 SCV004034633 uncertain significance not provided 2023-03-07 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18199528)

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