Submissions for variant NM_000038.6(APC):c.4143A>C (p.Pro1381=)

gnomAD frequency: 0.00001  dbSNP: rs778565823

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000424349	SCV000512075	likely benign	not provided	2019-01-23	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 19029688)
Invitae	RCV003535703	SCV000647499	likely benign	Familial adenomatous polyposis 1	2023-12-10	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000566135	SCV000667262	likely benign	Hereditary cancer-predisposing syndrome	2015-12-03	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: 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.
Color Diagnostics, LLC DBA Color Health	RCV000566135	SCV000681651	likely benign	Hereditary cancer-predisposing syndrome	2016-07-25	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000566135	SCV002531860	uncertain significance	Hereditary cancer-predisposing syndrome	2021-12-17	criteria provided, single submitter	curation
CeGaT Center for Human Genetics Tuebingen	RCV000424349	SCV004159221	likely benign	not provided	2022-06-01	criteria provided, single submitter	clinical testing	APC: BP4, BP7
PreventionGenetics, part of Exact Sciences	RCV003897840	SCV004717029	likely benign	APC-related condition	2021-01-22	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).