ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2383C>G (p.Leu795Val)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000809009 SCV000949143 uncertain significance Familial adenomatous polyposis 1 2018-11-01 criteria provided, single submitter clinical testing This sequence change replaces leucine with valine at codon 795 of the APC protein (p.Leu795Val). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and valine. 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. 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.
Laboratory for Molecular Medicine, Partners HealthCare Personalized Medicine RCV000825285 SCV000966578 uncertain significance not specified 2018-10-18 criteria provided, single submitter clinical testing The p.Leu795Val variant in APC has not been reported in individuals with APC-ass ociated polyposis conditions, but was identified in 1/250802 total chromosomes b y gnomAD ( Computational prediction tools and conservation analysis suggest that the variant may not impact the protein. In su mmary, the clinical significance of the p.Leu795Val variant is uncertain. ACMG/A MP Criteria applied: BP4, PM2.

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