Submissions for variant NM_000038.6(APC):c.5264C>T (p.Ala1755Val)

gnomAD frequency: 0.00001  dbSNP: rs771967537

Total submissions: 9

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV004563246	SCV000282775	likely benign	Familial adenomatous polyposis 1	2025-01-22	criteria provided, single submitter	clinical testing
GeneDx	RCV000485173	SCV000565735	uncertain significance	not provided	2022-07-21	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge; This variant is associated with the following publications: (PMID: 18199528)
Ambry Genetics	RCV000572688	SCV000667478	likely benign	Hereditary cancer-predisposing syndrome	2018-11-13	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.
Color Diagnostics, LLC DBA Color Health	RCV000572688	SCV000903279	likely benign	Hereditary cancer-predisposing syndrome	2016-09-18	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000485173	SCV001133347	uncertain significance	not provided	2019-08-02	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000572688	SCV002535120	uncertain significance	Hereditary cancer-predisposing syndrome	2021-09-15	criteria provided, single submitter	curation
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital	RCV002465578	SCV002760360	uncertain significance	not specified	2025-03-04	criteria provided, single submitter	clinical testing
Laboratory of Molecular Epidemiology of Birth Defects, West China Second University Hospital, Sichuan University	RCV003153519	SCV003843453	benign	Ovarian cancer	2022-01-01	criteria provided, single submitter	clinical testing
All of Us Research Program, National Institutes of Health	RCV003998674	SCV004838034	likely benign	Classic or attenuated familial adenomatous polyposis	2024-02-05	criteria provided, single submitter	clinical testing