Submissions for variant NM_005359.6(SMAD4):c.102A>G (p.Thr34=)

gnomAD frequency: 0.00032  dbSNP: rs146104321

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Ambry Genetics	RCV002310722	SCV000212671	likely benign	Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome	2014-12-12	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.
Counsyl	RCV000409431	SCV000489157	likely benign	Generalized juvenile polyposis/juvenile polyposis coli	2016-08-29	criteria provided, single submitter	clinical testing
GeneDx	RCV000438148	SCV000514701	benign	not specified	2015-03-19	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.
Invitae	RCV001507225	SCV000556149	benign	Juvenile polyposis syndrome	2024-01-29	criteria provided, single submitter	clinical testing
Color Diagnostics, LLC DBA Color Health	RCV000162365	SCV000686511	likely benign	Hereditary cancer-predisposing syndrome	2016-03-17	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000679583	SCV000806687	likely benign	not provided	2017-01-10	criteria provided, single submitter	clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano	RCV000679583	SCV001134821	benign	not provided	2023-03-16	criteria provided, single submitter	clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV000438148	SCV001737835	benign	not specified	2021-05-23	criteria provided, single submitter	clinical testing
Genetic Services Laboratory, University of Chicago	RCV000438148	SCV002067409	likely benign	not specified	2019-07-01	criteria provided, single submitter	clinical testing
Sema4, Sema4	RCV000162365	SCV002538290	benign	Hereditary cancer-predisposing syndrome	2022-03-02	criteria provided, single submitter	curation
Myriad Genetics, Inc.	RCV003315970	SCV004017786	benign	Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome	2023-04-10	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.