ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.954T>C (p.Pro318=)

dbSNP: rs773615487
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000417972 SCV000529593 uncertain significance not provided 2016-06-30 criteria provided, single submitter clinical testing This variant is denoted SMAD4 c.954T>C at the DNA level. This variant is silent at the coding level, preserving a Proline at codon 318. It is not predicted to cause abnormal splicing. This variant has not, to our knowledge, been published in the literature as being pathogenic or benign. SMAD4 c.954T>C was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The nucleotide which is altered, a thymine (T) at base 954, is conserved in mammals. Based on currently available information, it is unclear whether SMAD4 c.954T>C is a pathogenic or benign variant. We consider it to be a variant of uncertain significance.
Invitae RCV001087625 SCV000632814 likely benign Juvenile polyposis syndrome 2024-01-08 criteria provided, single submitter clinical testing
Ambry Genetics RCV002429418 SCV001180844 likely benign Familial thoracic aortic aneurysm and aortic dissection; Hereditary cancer-predisposing syndrome 2018-09-29 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 RCV001019481 SCV001735024 likely benign Hereditary cancer-predisposing syndrome 2021-01-02 criteria provided, single submitter clinical testing

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