ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.160T>C (p.Leu54=)

gnomAD frequency: 0.00001  dbSNP: rs1053158497
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000529396 SCV000632772 likely benign Juvenile polyposis syndrome 2023-09-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002319036 SCV001172853 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2019-03-21 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.
Color Diagnostics, LLC DBA Color Health RCV001012411 SCV001357357 likely benign Hereditary cancer-predisposing syndrome 2017-01-19 criteria provided, single submitter clinical testing

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