Submissions for variant NM_000038.6(APC):c.1338C>A (p.Ile446=)

dbSNP: rs759703047

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV003774070	SCV002489989	likely benign	Familial adenomatous polyposis 1	2023-10-13	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002382452	SCV002692705	likely benign	Hereditary cancer-predisposing syndrome	2022-02-03	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.
Institute for Biomarker Research, Medical Diagnostic Laboratories, L.L.C.	RCV002382452	SCV002819189	uncertain significance	Hereditary cancer-predisposing syndrome	2022-05-11	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV003774070	SCV004933553	benign	Familial adenomatous polyposis 1	2024-03-01	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.