ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.855C>T (p.Asn285=)

gnomAD frequency: 0.00001  dbSNP: rs1187796771
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Ambry Genetics RCV002311906 SCV000671970 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2015-04-21 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, 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 RCV000608699 SCV000727886 likely benign not specified 2018-02-20 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Color Diagnostics, LLC DBA Color Health RCV000562277 SCV000904362 likely benign Hereditary cancer-predisposing syndrome 2018-05-15 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000872461 SCV001014278 likely benign Juvenile polyposis syndrome 2024-11-03 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV003478264 SCV004220367 likely benign not provided 2023-04-20 criteria provided, single submitter clinical testing
Center for Genomic Medicine, Rigshospitalet, Copenhagen University Hospital RCV000608699 SCV004242940 likely benign not specified 2025-03-04 criteria provided, single submitter clinical testing
All of Us Research Program, National Institutes of Health RCV004001080 SCV004820051 likely benign Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2022-11-30 criteria provided, single submitter clinical testing

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