ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.231A>G (p.Thr77=)

gnomAD frequency: 0.00001  dbSNP: rs760990830
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002310728 SCV000213289 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-01-09 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 RCV000162808 SCV000906008 likely benign Hereditary cancer-predisposing syndrome 2016-03-21 criteria provided, single submitter clinical testing
Invitae RCV001422393 SCV001624939 likely benign Juvenile polyposis syndrome 2023-11-22 criteria provided, single submitter clinical testing
Sema4, Sema4 RCV000162808 SCV002538319 likely benign Hereditary cancer-predisposing syndrome 2022-02-19 criteria provided, single submitter curation

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