ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.290G>T (p.Arg97Leu)

dbSNP: rs1555685159
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Department of Internal Medicine, The University of Texas McGovern Medical School, The University of Texas Health Science Center at Houston RCV000678041 SCV000804195 likely pathogenic Heritable Thoracic Aortic Disease 2018-04-01 criteria provided, single submitter research This variant was identified in a family with thoracic aortic disease and no evidence of juvenile polyposis and/or hereditary hemorrhagic telangiectasia
Labcorp Genetics (formerly Invitae), Labcorp RCV001304441 SCV001493721 uncertain significance Juvenile polyposis syndrome 2020-01-20 criteria provided, single submitter clinical testing This variant has been observed in individual(s) with thoracic aortic aneurysm and dissection (PMID: 30809044). ClinVar contains an entry for this variant (Variation ID: 560163). This sequence change replaces arginine with leucine at codon 97 of the SMAD4 protein (p.Arg97Leu). The arginine residue is highly conserved and there is a moderate physicochemical difference between arginine and leucine. This variant is not present in population databases (ExAC no frequency). This variant has been reported to affect SMAD4 protein function (PMID: 30809044). 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.
University of Washington Center for Mendelian Genomics, University of Washington RCV001261772 SCV001439088 likely pathogenic Heritable thoracic aortic disease without juvenile polyposis and hereditary hemorrhagic telangiectasia no assertion criteria provided research

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