ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.483C>T (p.Pro161=)

gnomAD frequency: 0.00038  dbSNP: rs202203039
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001704441 SCV000530069 likely benign not provided 2019-05-28 criteria provided, single submitter clinical testing
Invitae RCV000549019 SCV000658879 benign Familial thoracic aortic aneurysm and aortic dissection 2024-02-01 criteria provided, single submitter clinical testing
Ambry Genetics RCV000549019 SCV000739665 likely benign Familial thoracic aortic aneurysm and aortic dissection 2016-05-13 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 RCV000549019 SCV000913848 likely benign Familial thoracic aortic aneurysm and aortic dissection 2018-10-18 criteria provided, single submitter clinical testing

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