ClinVar Miner

Submissions for variant NM_005359.6(SMAD4):c.1447+6_1447+7insGTTG

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
All of Us Research Program, National Institutes of Health RCV004013253 SCV004824813 uncertain significance Juvenile polyposis/hereditary hemorrhagic telangiectasia syndrome 2023-08-15 criteria provided, single submitter clinical testing This variant causes the insertion of GTTG between the +6 and +7 positions in intron 11 of the SMAD4 gene. To our knowledge, RNA studies have not been reported for this variant. This variant has not been reported in individuals affected with SMAD4-related disorders in the literature. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). The available evidence is insufficient to determine the role of this variant in disease conclusively. Therefore, this variant is classified as a Variant of Uncertain Significance.

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