ClinVar Miner

Submissions for variant NM_000038.6(APC):c.3378C>G (p.Ser1126Arg) (rs149353082)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000120024 SCV000148991 likely benign not specified 2017-12-01 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Counsyl RCV000411300 SCV000487902 uncertain significance Familial adenomatous polyposis 1 2015-12-04 criteria provided, single submitter clinical testing
Invitae RCV000411300 SCV000552651 uncertain significance Familial adenomatous polyposis 1 2018-12-21 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 1126 of the APC protein (p.Ser1126Arg). The serine residue is weakly conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs149353082, ExAC 0.09%). This variant has been reported in individuals affected with familial adenomatous polyposis (PMID: 19768578, 26625971), as well as in unaffected individuals (PMID: 16569251). This sequence change (c.3378C>G) has been referred to incorrectly as encoding a serine to tryptophan and a glutamic acid to glutamine change in the literature (PMID: 19768578). ClinVar contains an entry for this variant (Variation ID: 127288). 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: "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.
Department of Pathology and Laboratory Medicine,Sinai Health System RCV000120024 SCV000591138 uncertain significance not specified 2016-07-19 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000120024 SCV000600080 uncertain significance not specified 2017-05-04 criteria provided, single submitter clinical testing
Ambry Genetics RCV000565031 SCV000667245 likely benign Hereditary cancer-predisposing syndrome 2017-09-06 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Detected in individual satisfying established diagnostic critera for classic disease without a clear mutation,in silico models in agreement (benign),Other data supporting benign classification
Color RCV000565031 SCV000681594 uncertain significance Hereditary cancer-predisposing syndrome 2018-07-09 criteria provided, single submitter clinical testing
ITMI RCV000120024 SCV000084155 not provided not specified 2013-09-19 no assertion provided reference population
3DMed Clinical Laboratory Inc RCV000677784 SCV000803940 uncertain significance Carcinoma of colon 2018-01-29 no assertion criteria provided clinical testing

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