ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2719G>A (p.Gly907Arg) (rs771458366)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV000216931 SCV000276544 uncertain significance Hereditary cancer-predisposing syndrome 2016-11-29 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
GeneDx RCV000235531 SCV000293622 uncertain significance not provided 2018-10-01 criteria provided, single submitter clinical testing This variant is denoted APC c.2719G>A at the cDNA level, p.Gly907Arg (G907R) at the protein level, and results in the change of a Glycine to an Arginine (GGG>AGG). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. APC Gly907Arg was not observed at a significant allele frequency in large population cohorts (Lek 2016). APC Gly907Arg is not located in a known functional domain. In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function. Based on currently available evidence, it is unclear whether APC Gly907Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV000527886 SCV000647261 uncertain significance Familial adenomatous polyposis 1 2018-11-16 criteria provided, single submitter clinical testing This sequence change replaces glycine with arginine at codon 907 of the APC protein (p.Gly907Arg). The glycine residue is moderately conserved and there is a moderate physicochemical difference between glycine and arginine. This variant is present in population databases (rs771458366, 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: 232412). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C0"). 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.
Color RCV000216931 SCV000686908 uncertain significance Hereditary cancer-predisposing syndrome 2018-09-26 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000235531 SCV001133315 uncertain significance not provided 2019-04-15 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000216931 SCV000693474 uncertain significance Hereditary cancer-predisposing syndrome 2017-09-21 no assertion criteria provided clinical testing

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