ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.954T>C (p.Pro318=) (rs773615487)

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Total submissions: 2
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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 RCV000557528 SCV000632814 likely benign Juvenile polyposis syndrome 2017-04-12 criteria provided, single submitter clinical testing

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