Submissions for variant NM_000038.6(APC):c.1596A>G (p.Gln532=)

gnomAD frequency: 0.00001  dbSNP: rs1331131200

Total submissions: 7

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
GeneDx	RCV000499632	SCV000723784	likely benign	not specified	2017-10-16	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	RCV000776707	SCV000912336	likely benign	Hereditary cancer-predisposing syndrome	2017-12-08	criteria provided, single submitter	clinical testing
Invitae	RCV003535790	SCV001080492	likely benign	Familial adenomatous polyposis 1	2023-12-26	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV000776707	SCV002706839	likely benign	Hereditary cancer-predisposing syndrome	2021-03-09	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.	RCV000776707	SCV004014914	likely benign	Hereditary cancer-predisposing syndrome	2023-01-24	criteria provided, single submitter	clinical testing
Myriad Genetics, Inc.	RCV004023353	SCV004931876	benign	Familial adenomatous polyposis 1	2024-03-07	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.
Department of Pathology and Laboratory Medicine, Sinai Health System	RCV001353676	SCV000591079	uncertain significance	not provided		no assertion criteria provided	clinical testing	The p.Gln532Gln variant has not been previously identified in the literature. This variant is not expected to have clinical significance because it does not alter an amino acid residue, is not located near a splice junction. In addition, in-silico or computational prediction software (SpliceSiteFinder, MaxEntScan, NNSPLICE, GeneSplicer, HumanSpliceFinder) predicts no change in the splice site prediction score. In summary, the clinical significance of this variant cannot be determined with certainty at this time, although we would lean towards a more benign role for this variant. This variant is classified as Predicted Benign.