ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5147A>G (p.Asn1716Ser)

gnomAD frequency: 0.00002  dbSNP: rs141298709
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 9
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000465464 SCV000552516 likely benign Familial adenomatous polyposis 1 2025-01-14 criteria provided, single submitter clinical testing
GeneDx RCV000481145 SCV000567743 uncertain significance not provided 2019-10-11 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Ambry Genetics RCV000572058 SCV000667223 likely benign Hereditary cancer-predisposing syndrome 2017-08-22 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Counsyl RCV000465464 SCV000785395 uncertain significance Familial adenomatous polyposis 1 2017-07-24 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000481145 SCV000805423 uncertain significance not provided 2017-08-10 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000572058 SCV000903273 likely benign Hereditary cancer-predisposing syndrome 2016-07-05 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV000465464 SCV004018285 uncertain significance Familial adenomatous polyposis 1 2023-02-14 criteria provided, single submitter clinical testing This variant is classified as a variant of uncertain significance as there is insufficient evidence to determine its impact on protein function and/or cancer risk.
All of Us Research Program, National Institutes of Health RCV004001930 SCV004838008 likely benign Classic or attenuated familial adenomatous polyposis 2023-10-23 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV005044700 SCV005667860 uncertain significance Desmoid disease, hereditary; Familial adenomatous polyposis 1; Hepatocellular carcinoma; Gastric cancer; Colorectal cancer; Gastric adenocarcinoma and proximal polyposis of the stomach 2024-03-20 criteria provided, single submitter 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.