ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.341A>G (p.Asn114Ser)

gnomAD frequency: 0.00001  dbSNP: rs369221296
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Illumina Laboratory Services, Illumina RCV000350891 SCV000393481 uncertain significance Loeys-Dietz syndrome 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000405853 SCV000393482 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2016-06-14 criteria provided, single submitter clinical testing
Color Diagnostics, LLC DBA Color Health RCV000405853 SCV001343342 uncertain significance Familial thoracic aortic aneurysm and aortic dissection 2022-11-09 criteria provided, single submitter clinical testing This missense variant replaces asparagine with serine at codon 114 of the SMAD3 protein. Computational prediction suggests that this variant may not impact protein structure and function (internally defined REVEL score threshold <= 0.5, PMID: 27666373). To our knowledge, functional studies have not been reported for this variant. This variant has not been reported in individuals affected with SMAD3-related disorders in the literature. This variant has been identified in 5/251456 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.
GeneDx RCV001753777 SCV001987006 uncertain significance not provided 2019-07-09 criteria provided, single submitter clinical testing Has not been previously published as pathogenic or benign to our knowledge; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function
CeGaT Center for Human Genetics Tuebingen RCV001753777 SCV004132730 uncertain significance not provided 2022-04-01 criteria provided, single submitter clinical testing SMAD3: PP2

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