ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.756A>G (p.Gly252=)

dbSNP: rs1244121412
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV000581784 SCV000691432 likely benign Hereditary cancer-predisposing syndrome 2017-09-05 criteria provided, single submitter clinical testing
Invitae RCV000865944 SCV001006974 likely benign Juvenile polyposis syndrome 2024-01-19 criteria provided, single submitter clinical testing
Ambry Genetics RCV002431734 SCV001188981 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2022-12-20 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.
GeneDx RCV001537083 SCV001753912 uncertain significance not provided 2020-03-23 criteria provided, single submitter clinical testing Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis supports that this variant does not alter splicing; Has not been previously published as pathogenic or benign to our knowledge
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV002268214 SCV002551312 likely benign not specified 2023-08-15 criteria provided, single submitter clinical testing

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