ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.*4C>T

gnomAD frequency: 0.00001  dbSNP: rs1252748287
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Color Diagnostics, LLC DBA Color Health RCV001187615 SCV001354465 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-03-22 criteria provided, single submitter clinical testing This variant is located in the 3' untranslated region of the SMAD3 gene. To our knowledge, functional studies have not been reported for this variant nor has this variant been reported in individuals affected with cardiovascular disorders in the literature. This variant has been identified in 3/282704 chromosomes 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.
PreventionGenetics, part of Exact Sciences RCV004538420 SCV004730496 likely benign SMAD3-related disorder 2021-04-01 criteria provided, single submitter clinical testing This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).
Breakthrough Genomics, Breakthrough Genomics RCV004695133 SCV005193899 uncertain significance not provided criteria provided, single submitter not provided

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