ClinVar Miner

Submissions for variant NM_000038.6(APC):c.385G>C (p.Glu129Gln) (rs376628500)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 10
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000196705 SCV000254011 benign Familial adenomatous polyposis 1 2020-12-02 criteria provided, single submitter clinical testing
Ambry Genetics RCV000216893 SCV000273092 likely benign Hereditary cancer-predisposing syndrome 2019-11-18 criteria provided, single submitter clinical testing Co-occurence with a mutation in another gene that clearly explains a proband's phenotype;In silico models in agreement (benign);Other data supporting benign classification
Counsyl RCV000196705 SCV000489348 uncertain significance Familial adenomatous polyposis 1 2016-09-26 criteria provided, single submitter clinical testing
GeneDx RCV000589545 SCV000490404 likely benign not provided 2019-05-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 24728327, 28615371, 29753010, 30093976)
Color Health, Inc RCV000216893 SCV000681635 likely benign Hereditary cancer-predisposing syndrome 2020-04-07 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000589545 SCV000694039 likely benign not provided 2016-05-09 criteria provided, single submitter clinical testing Variant summary: The APC c.385G>C (p.Glu129Gln) variant involves the alteration of a conserved nucleotide. 2/4 in silico tools predict a benign outcome (SNPs&GO not captured due to low reliability index). This variant was found in 8/122738 control chromosomes, predominantly observed in the East Asian subpopulation at a frequency of 0.000911 (8/8772). This frequency is about 15 times the estimated maximal expected allele frequency of a pathogenic APC variant (0.0000602), suggesting this is likely a benign polymorphism found primarily in populations of East Asian origin. A clinical diagnostic laboratory classified this variant as Uncertain. The variant of interest has not, to our knowledge, been reported in affected individuals via publications; nor evaluated for functional impact by in vivo/vitro studies. Considering the high prevalence of the variant in the East ASian population, it was classified as Likely Benign.
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000589545 SCV001470644 likely benign not provided 2019-12-13 criteria provided, single submitter clinical testing
ITMI RCV000120050 SCV000084186 not provided not specified 2013-09-19 no assertion provided reference population
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000589545 SCV001799446 likely benign not provided no assertion criteria provided clinical testing
Clinical Genetics,Academic Medical Center RCV000589545 SCV001922571 likely benign not provided no assertion criteria provided clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.