ClinVar Miner

Submissions for variant NM_000038.6(APC):c.8128A>C (p.Ser2710Arg) (rs760472102)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000534149 SCV000647754 uncertain significance Familial adenomatous polyposis 1 2018-12-24 criteria provided, single submitter clinical testing This sequence change replaces serine with arginine at codon 2710 of the APC protein (p.Ser2710Arg). The serine residue is moderately conserved and there is a moderate physicochemical difference between serine and arginine. This variant is present in population databases (rs760472102, ExAC 0.01%) but has not been reported in the literature in individuals with an APC-related disease. 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, 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.
Ambry Genetics RCV000574146 SCV000672499 uncertain significance Hereditary cancer-predisposing syndrome 2017-08-01 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient evidence
Color RCV000574146 SCV000681912 uncertain significance Hereditary cancer-predisposing syndrome 2018-08-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000588362 SCV000694136 uncertain significance not provided 2016-04-25 criteria provided, single submitter clinical testing Variant summary: The c.8128A>C variant in APC gene is a missense change that involves a moderately conserved nucleotide and 3/5 in silico tools predicted deleterious outcome. The variant is present in the control population dataset of ExAC at a low frequency (1/121386 control chrs). To our knowledge, it has not been previously reported in affected individuals via publications or cited by reputable database/diagnostic center. Taken together, the variant was classified as VUS until more data becomes available.
Counsyl RCV000534149 SCV000786019 uncertain significance Familial adenomatous polyposis 1 2018-02-02 criteria provided, single submitter clinical testing

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