ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6040G>A (p.Val2014Ile) (rs143313902)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000601902 SCV000731389 uncertain significance not specified 2017-02-20 criteria provided, single submitter clinical testing The p.Val2014Ile variant in APC has not been previously reported in individuals with familial adenomatous polyposis or other APC-associated disorders. This vari ant has been identified in 1/8636 of East Asian chromosomes by the Exome Aggrega tion Consortium (ExAC, http://exac.broadinstitute.org; dbSNP rs143313902). Compu tational prediction tools and conservation analysis do not provide strong suppor t for or against an impact to the protein. In summary, the clinical significance of the p.Val2014Ile variant is uncertain.
Invitae RCV000704041 SCV000832974 uncertain significance Familial adenomatous polyposis 1 2018-04-25 criteria provided, single submitter clinical testing This sequence change replaces valine with isoleucine at codon 2014 of the APC protein (p.Val2014Ile). The valine residue is highly conserved and there is a small physicochemical difference between valine and isoleucine. This variant is present in population databases (rs143313902, ExAC 0.01%). 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: "Tolerated"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C0"). 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.

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