ClinVar Miner

Submissions for variant NM_000038.6(APC):c.473A>T (p.Tyr158Phe) (rs587782477)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000131591 SCV000186603 uncertain significance Hereditary cancer-predisposing syndrome 2013-07-16 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Invitae RCV000457825 SCV000552552 uncertain significance Familial adenomatous polyposis 1 2016-09-20 criteria provided, single submitter clinical testing This sequence change replaces tyrosine with phenylalanine at codon 158 of the APC protein (p.Tyr158Phe). The tyrosine residue is highly conserved and there is a small physicochemical difference between tyrosine 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. ClinVar contains an entry for this variant (Variation ID: 142459). 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: "Possibly Damaging"; Align-GVGD: "Class C0"). In summary, this variant is a rare missense change with uncertain impact on protein function. There is no indication that it causes disease, but the available evidence is currently insufficient to prove that conclusively. Therefore, it has been classified as a Variant of Uncertain Significance.

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