ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2892A>C (p.Leu964Phe)

dbSNP: rs1554084570
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV003767014 SCV000647281 uncertain significance Familial adenomatous polyposis 1 2019-04-14 criteria provided, single submitter clinical testing In summary, this variant is a novel missense change with uncertain impact on protein function. It has been classified as a Variant of Uncertain Significance. 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: "Deleterious"; PolyPhen-2: "Probably Damaging"; Align-GVGD: "Class C15"). This variant is not present in population databases (ExAC no frequency) and has not been reported in the literature in individuals with a APC-related disease. This sequence change replaces leucine with phenylalanine at codon 964 of the APC protein (p.Leu964Phe). The leucine residue is highly conserved and there is a small physicochemical difference between leucine and phenylalanine.

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