ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.275_281delinsC (p.Trp92_Trp94delinsSer)

dbSNP: rs863223756
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000195732 SCV000250784 likely pathogenic not provided 2019-03-08 criteria provided, single submitter clinical testing Has not been previously reported as pathogenic or benign to our knowledge; Not observed in large population cohorts (Lek et al., 2016); In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect
Invitae RCV001242563 SCV001415658 pathogenic Familial thoracic aortic aneurysm and aortic dissection 2023-07-25 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant disrupts a region of the SMAD3 protein in which other variant(s) (p.Arg93Gln) have been determined to be pathogenic (PMID: 29543232; Invitae). This suggests that this is a clinically significant region of the protein, and that variants that disrupt it are likely to be disease-causing. ClinVar contains an entry for this variant (Variation ID: 213789). This variant has been observed in individuals with SMAD3-related conditions (Invitae). This variant, c.275_281delinsC, is a complex sequence change that results in the deletion of 3 and insertion of 1 amino acid(s) in the SMAD3 protein (p.Trp92_Trp94delinsSer).
Seelig Lab, University of Washington RCV000195732 SCV000897891 not provided not provided no assertion provided in vitro

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