ClinVar Miner

Submissions for variant NM_000038.6(APC):c.2627G>A (p.Arg876Gln) (rs373428732)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000206834 SCV000262249 benign Familial adenomatous polyposis 1 2017-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000236048 SCV000293033 uncertain significance not provided 2018-02-25 criteria provided, single submitter clinical testing This variant is denoted APC c.2627G>A at the cDNA level, p.Arg876Gln (R876Q) at the protein level, and results in the change of an Arginine to a Glutamine (CGA>CAA). This variant has not, to our knowledge, been published in the literature as either a germline pathogenic variant or a benign polymorphism. However, this variant has been reported as a somatic variant in colon and myelodysplastic syndrome tumors (Vasovcak 2011, Seshagiri 2012, Luthra 2014). APC Arg876Gln was observed at an allele frequency of 0.01%, (13/126090) in individuals of European (Non-Finnish) ancestry in large population cohorts (Lek 2016). Since Arginine and Glutamine differ in some properties, this is considered a semi-conservative amino acid substitution. APC Arg876Gln 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 information, it is unclear whether APC Arg876Gln is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Counsyl RCV000206834 SCV000489272 uncertain significance Familial adenomatous polyposis 1 2016-09-13 criteria provided, single submitter clinical testing
Ambry Genetics RCV000491164 SCV000579833 uncertain significance Hereditary cancer-predisposing syndrome 2016-06-27 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence
Color RCV000491164 SCV000681541 uncertain significance Hereditary cancer-predisposing syndrome 2018-06-21 criteria provided, single submitter clinical testing
Mendelics RCV000206834 SCV000838093 uncertain significance Familial adenomatous polyposis 1 2018-07-02 criteria provided, single submitter clinical testing

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