ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.1086T>C (p.Phe362=) (rs1801250)

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Total submissions: 16
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000587945 SCV000605223 benign not provided 2017-08-24 criteria provided, single submitter clinical testing
Ambry Genetics RCV000617128 SCV000212861 likely benign Cardiovascular phenotype 2014-09-25 criteria provided, single submitter clinical testing
CHEO Genetics Diagnostic Laboratory,Children's Hospital of Eastern Ontario RCV000770698 SCV000902175 benign Thoracic aortic aneurysm and aortic dissection 2017-08-16 criteria provided, single submitter clinical testing
Color RCV000128172 SCV000686513 benign Hereditary cancer-predisposing syndrome 2016-03-17 criteria provided, single submitter clinical testing
EGL Genetic Diagnostics,Eurofins Clinical Diagnostics RCV000213005 SCV000860202 likely benign not specified 2018-03-27 criteria provided, single submitter clinical testing
GeneDx RCV000213005 SCV000171764 benign not specified 2013-12-26 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.
Illumina Clinical Services Laboratory,Illumina RCV000388633 SCV000409099 likely benign Myhre syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000273483 SCV000409100 likely benign Osler hemorrhagic telangiectasia syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000330854 SCV000409101 likely benign Juvenile Polyposis 2016-06-14 criteria provided, single submitter clinical testing
Integrated Genetics/Laboratory Corporation of America RCV000587945 SCV000698561 benign not provided 2016-02-23 criteria provided, single submitter clinical testing Variant summary: The c.1086T>C in SMAD4 gene is a synonymous change that involves a conserved nucleotide. 5/5 programs in Alamut predict that this variant does not affect normal splicing, however no functional studies supporting this notion were published at the time of evaluation. The variant was found in multiple affected individuals presented with personal and/or family history of cancer. It is present in the control population dataset of ExAC at frequency of 0.17%, including 2 homozygous occurrences. The observed frequency exceeds the maximum expected allele frequency for a pathogenic SMAD4 variant, suggesting that it is a common polymorphism. However, some of these occurrences may potentially be due to a presence of a processed pseudogene, and, therefore, should be taken with cautions. Lastly, the variant has been reported as Likely Benign/Benign by reputable databases/clinical laboratories. Taken together, this variant has been classified as Benign.
Invitae RCV000119116 SCV000153829 benign Juvenile polyposis syndrome 2018-01-23 criteria provided, single submitter clinical testing
Mayo Clinic Genetic Testing Laboratories,Mayo Clinic RCV000213005 SCV000692036 likely benign not specified no assertion criteria provided clinical testing
PreventionGenetics RCV000213005 SCV000806688 benign not specified 2016-12-14 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000213005 SCV000602189 likely benign not specified 2017-06-01 criteria provided, single submitter clinical testing
Quest Diagnostics Nichols Institute San Juan Capistrano RCV000587945 SCV000889838 benign not provided 2018-06-29 criteria provided, single submitter clinical testing
True Health Diagnostics RCV000128172 SCV000788211 likely benign Hereditary cancer-predisposing syndrome 2017-10-10 no assertion criteria provided clinical testing

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