ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.399C>T (p.Tyr133=)

gnomAD frequency: 0.00001  dbSNP: rs779069779
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000463836 SCV000556148 likely benign Juvenile polyposis syndrome 2023-08-22 criteria provided, single submitter clinical testing
Ambry Genetics RCV002313197 SCV000675136 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2017-07-20 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 RCV000567081 SCV000691414 likely benign Hereditary cancer-predisposing syndrome 2017-07-17 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001192753 SCV001361081 likely benign not specified 2019-12-27 criteria provided, single submitter clinical testing
GeneDx RCV001547518 SCV001767250 likely benign not provided 2020-09-24 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV001547518 SCV004220357 likely benign not provided 2022-10-21 criteria provided, single submitter clinical testing

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