ClinVar Miner

Submissions for variant NM_000038.6(APC):c.5025T>G (p.Val1675=)

gnomAD frequency: 0.00009  dbSNP: rs876658169
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
Ambry Genetics RCV000218471 SCV000273070 likely benign Hereditary cancer-predisposing syndrome 2014-12-13 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.
GeneDx RCV000758731 SCV000516632 likely benign not provided 2019-03-27 criteria provided, single submitter clinical testing
Invitae RCV004020643 SCV000647552 benign Familial adenomatous polyposis 1 2024-01-05 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000218471 SCV000681700 likely benign Hereditary cancer-predisposing syndrome 2017-03-07 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000758731 SCV000887530 benign not provided 2022-08-30 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000218471 SCV002534976 benign Hereditary cancer-predisposing syndrome 2021-09-15 criteria provided, single submitter curation
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV002509311 SCV002819323 benign not specified 2022-12-08 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV003907828 SCV004722095 likely benign APC-related disorder 2019-07-31 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
All of Us Research Program, National Institutes of Health RCV003997765 SCV004837993 likely benign Classic or attenuated familial adenomatous polyposis 2024-01-18 criteria provided, single submitter clinical testing
Myriad Genetics, Inc. RCV004020643 SCV004931823 benign Familial adenomatous polyposis 1 2024-03-28 criteria provided, single submitter clinical testing This variant is considered benign. This variant is a silent/synonymous amino acid change and it is not expected to impact splicing.

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.