ClinVar Miner

Submissions for variant NM_000038.6(APC):c.6669A>G (p.Ser2223=) (rs372680843)

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Total submissions: 9
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000122794 SCV000166051 benign Familial adenomatous polyposis 1 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV000211927 SCV000209481 benign not specified 2014-07-11 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.
Ambry Genetics RCV000159524 SCV000213692 likely benign Hereditary cancer-predisposing syndrome 2014-10-31 criteria provided, single submitter clinical testing
Counsyl RCV000122794 SCV000487996 likely benign Familial adenomatous polyposis 1 2015-12-18 criteria provided, single submitter clinical testing
Color RCV000159524 SCV000681814 likely benign Hereditary cancer-predisposing syndrome 2016-07-20 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics,ARUP Laboratories RCV000211927 SCV000883406 likely benign not specified 2018-10-23 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000755820 SCV000887544 benign not provided 2018-04-12 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000211927 SCV000916512 benign not specified 2018-11-16 criteria provided, single submitter clinical testing Variant summary: APC c.6669A>G results in a synonymous change. 5/5 computational tools predict no significant impact on normal splicing. However, these predictions have yet to be confirmed by functional studies. The variant allele was found at a frequency of 0.00013 in 276708 control chromosomes. The observed variant frequency is approximately 1.82 fold of the estimated maximal expected allele frequency for a pathogenic variant in APC causing Familial Adenomatous Polyposis phenotype (7.1e-05), strongly suggesting that the variant is benign. To our knowledge, no occurrence of c.6669A>G in individuals affected with Familial Adenomatous Polyposis and no experimental evidence demonstrating its impact on protein function have been reported. Three clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014 without evidence for independent evaluation. All laboratories classified the variant as benign/likely benign. Based on the evidence outlined above, the variant was classified as benign.
CeGaT Praxis fuer Humangenetik Tuebingen RCV000755820 SCV001154476 likely benign not provided 2018-11-01 criteria provided, single submitter clinical testing

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