ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.768G>A (p.Gln256=)

gnomAD frequency: 0.00001  dbSNP: rs755677513
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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 RCV000583101 SCV000691433 likely benign Hereditary cancer-predisposing syndrome 2017-04-27 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000936121 SCV001081884 likely benign Juvenile polyposis syndrome 2024-12-30 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431735 SCV001189146 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2016-12-14 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.
All of Us Research Program, National Institutes of Health RCV004802274 SCV005424208 likely benign Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2024-02-22 criteria provided, single submitter clinical testing

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