Submissions for variant NM_000038.6(APC):c.4237A>G (p.Met1413Val)

gnomAD frequency: 0.00018  dbSNP: rs141519952

Total submissions: 17

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000122777	SCV000166034	benign	Familial adenomatous polyposis 1	2025-01-22	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000131786	SCV000186835	benign	Hereditary cancer-predisposing syndrome	2014-12-09	criteria provided, single submitter	clinical testing	This alteration is classified as 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	RCV000589855	SCV000209524	likely benign	not provided	2020-10-14	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24728327, 20233475, 25637381, 21859464, 18199528, 26416840, 27153395, 26332594, 23085758)
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine	RCV000120015	SCV000538299	uncertain significance	not specified	2017-01-24	criteria provided, single submitter	clinical testing	Variant identified in a genome or exome case(s) and assessed due to predicted null impact of the variant or pathogenic assertions in the literature or databases. Disclaimer: This variant has not undergone full assessment. The following are preliminary notes: Classified within the last year. Didn't undergo full assessment. Seen in 7 papers, including in unaffected individuals and homozygous in one patient. MaxMAF .132% (but only 758 chrs). AA not conserved - Val seen in hamster.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000589855	SCV000694048	benign	not provided	2016-02-01	criteria provided, single submitter	clinical testing
Mendelics	RCV000122777	SCV000838113	likely benign	Familial adenomatous polyposis 1	2018-07-02	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000131786	SCV000902669	benign	Hereditary cancer-predisposing syndrome	2016-07-20	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000589855	SCV001133335	likely benign	not provided	2019-07-16	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000131786	SCV002531971	likely benign	Hereditary cancer-predisposing syndrome	2021-07-27	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV000120015	SCV002760356	likely benign	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV000131786	SCV004228135	uncertain significance	Hereditary cancer-predisposing syndrome	2023-09-26	criteria provided, single submitter	clinical testing
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV005359126	SCV005913529	likely benign	Desmoid disease, hereditary	2019-12-02	criteria provided, single submitter	clinical testing
ITMI	RCV000120015	SCV000084145	not provided	not specified	2013-09-19	no assertion provided	reference population
CSER _CC_NCGL, University of Washington	RCV000148358	SCV000190048	likely benign	Colorectal adenoma	2014-06-01	no assertion criteria provided	research
Joint Genome Diagnostic Labs from Nijmegen and Maastricht, Radboudumc and MUMC+	RCV000589855	SCV001953409	likely benign	not provided		no assertion criteria provided	clinical testing
Clinical Genetics DNA and cytogenetics Diagnostics Lab, Erasmus MC, Erasmus Medical Center	RCV000589855	SCV001970607	likely benign	not provided		no assertion criteria provided	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003915187	SCV004737007	likely benign	APC-related disorder	2019-03-24	no assertion criteria provided	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).