ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1263A>G (p.Ala421=)

gnomAD frequency: 0.00001  dbSNP: rs1406947861
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581665 SCV000691392 likely benign Hereditary cancer-predisposing syndrome 2017-05-26 criteria provided, single submitter clinical testing
Ambry Genetics RCV002315877 SCV000739692 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2016-12-21 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.
Invitae RCV001465404 SCV001669389 likely benign Juvenile polyposis syndrome 2022-01-27 criteria provided, single submitter clinical testing
GeneDx RCV003236820 SCV003935847 uncertain significance not provided 2023-06-22 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge

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