ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2840G>T (p.Cys947Phe) (rs997271472)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000526686 SCV000647275 uncertain significance Familial adenomatous polyposis 1 2017-01-30 criteria provided, single submitter clinical testing This sequence change replaces cysteine with phenylalanine at codon 947 of the APC protein (p.Cys947Phe). The cysteine residue is highly conserved and there is a large physicochemical difference between cysteine and phenylalanine. 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. 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"). 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.
Integrated Genetics/Laboratory Corporation of America RCV000780853 SCV000918466 uncertain significance not specified 2017-12-22 criteria provided, single submitter clinical testing Variant summary: The APC c.2840G>T (p.Cys947Phe) variant involves the alteration of a conserved nucleotide and 4/5 in silico tools predict a damaging outcome for this variant. However, these predictions have yet to be functionally assessed. This variant is absent in 245618 control chromosomes (gnomAD). The variant of interest has not, to our knowledge, been reported in affected individuals via publications and/or reputable databases/clinical diagnostic laboratories. Because of the absence of clinical information and the lack of functional studies, the variant is classified as a "Variant of Uncertain Significance (VUS)," until additional information becomes available.

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