ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.375T>C (p.Ser125=)

gnomAD frequency: 0.00001  dbSNP: rs863224401
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000200777 SCV000253435 likely benign Juvenile polyposis syndrome 2023-11-27 criteria provided, single submitter clinical testing
GeneDx RCV001705151 SCV000522033 likely benign not provided 2019-01-31 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000771623 SCV000904228 likely benign Hereditary cancer-predisposing syndrome 2018-07-03 criteria provided, single submitter clinical testing
Ambry Genetics RCV002318957 SCV001182639 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-01-18 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.

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