ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5506G>A (p.Gly1836Arg) (rs766739164)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000478919 SCV000282781 likely benign not provided 2019-02-22 criteria provided, single submitter clinical testing
GeneDx RCV000478919 SCV000569766 uncertain significance not provided 2018-10-11 criteria provided, single submitter clinical testing This variant is denoted APC c.5506G>A at the cDNA level, p.Gly1836Arg (G1836R) at the protein level, and results in the change of a Glycine to an Arginine (GGA>AGA). This variant has not, to our knowledge, been published in the literature as a pathogenic or benign germline variant. APC Gly1836Arg was observed at an allele frequency of 0.13% (45/34,386) in individuals of Latino ancestry in large population cohorts (Lek 2016). This variant is located in the 20-amino acid repeat beta-catenin down-regulating domain and the SAMP repeats/axin binding domain (Azzopardi 2008). In-silico analysis, which includes protein predictors and evolutionary conservation, support a deleterious effect. Based on currently available evidence, it is unclear whether APC Gly1836Arg is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Ambry Genetics RCV000561275 SCV000667290 likely benign Hereditary cancer-predisposing syndrome 2017-05-17 criteria provided, single submitter clinical testing Lines of evidence used in support of classification: Insufficient or conflicting evidence,Subpopulation frequency in support of benign classification,Other data supporting benign classification
PreventionGenetics,PreventionGenetics RCV000478919 SCV000805435 uncertain significance not provided 2017-01-10 criteria provided, single submitter clinical testing
Color RCV000561275 SCV000902919 benign Hereditary cancer-predisposing syndrome 2017-02-10 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000478919 SCV001133349 benign not provided 2019-02-05 criteria provided, single submitter clinical testing

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