ClinVar Miner

Submissions for variant NM_005359.5(SMAD4):c.812G>A (p.Ser271Asn) (rs1343555503)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000635461 SCV000756875 uncertain significance Juvenile polyposis syndrome 2018-10-24 criteria provided, single submitter clinical testing This sequence change replaces serine with asparagine at codon 271 of the SMAD4 protein (p.Ser271Asn). The serine residue is moderately conserved and there is a small physicochemical difference between serine and asparagine. This variant is not present in population databases (ExAC no frequency). This variant has been reported in a cohort of individuals affected with thoracic aortic aneurysm (PMID: 28716708). An experimental study has shown that this missense change results in increased basal activation of TGF-β signaling (PMID: 28716708). However, the clinical significance of this finding is unclear. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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