ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6383C>T (p.Ala2128Val) (rs753228011)

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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 RCV000213966 SCV000277342 uncertain significance Hereditary cancer-predisposing syndrome 2015-07-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Rarity in general population databases (dbsnp, esp, 1000 genomes),Insufficient or conflicting evidence,In silico models in agreement (benign)
Invitae RCV000532026 SCV000647639 uncertain significance Familial adenomatous polyposis 1 2018-06-06 criteria provided, single submitter clinical testing This sequence change replaces alanine with valine at codon 2128 of the APC protein (p.Ala2128Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine. This variant is present in population databases (rs753228011, ExAC 0.01%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 233045). 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 has uncertain impact on APC function. The available evidence is currently insufficient to determine its role in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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