ClinVar Miner

Submissions for variant NM_000038.6(APC):c.7558G>A (p.Gly2520Arg) (rs746138566)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000167413 SCV000218268 uncertain significance Hereditary cancer-predisposing syndrome 2014-12-30 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Rarity in general population databases (dbsnp, esp, 1000 genomes)
Invitae RCV000196779 SCV000254037 uncertain significance Familial adenomatous polyposis 1 2018-09-27 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 2520 of the APC protein (p.Gly2520Arg). The glycine residue is highly conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs746138566, ExAC 0.001%). This variant has not been reported in the literature in individuals with APC-related disease. ClinVar contains an entry for this variant (Variation ID: 187664). 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, 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.
Counsyl RCV000196779 SCV000489492 uncertain significance Familial adenomatous polyposis 1 2016-10-17 criteria provided, single submitter clinical testing

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