Submissions for variant NM_000038.6(APC):c.1035A>T (p.Ile345=)

dbSNP: rs1057521594

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000417819	SCV000523725	likely benign	not specified	2016-01-25	criteria provided, single submitter	clinical testing	This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health	RCV001177576	SCV001341812	likely benign	Hereditary cancer-predisposing syndrome	2020-01-21	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV001177576	SCV002698578	likely benign	Hereditary cancer-predisposing syndrome	2020-03-04	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.
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563334	SCV004411893	likely benign	Familial adenomatous polyposis 1	2023-08-27	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004563334	SCV004933787	benign	Familial adenomatous polyposis 1	2024-02-29	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.