ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.303_304insTC (p.Glu102fs)

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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 RCV004015932 SCV004826347 likely pathogenic Aneurysm-osteoarthritis syndrome 2023-05-31 criteria provided, single submitter clinical testing The c.303_304insTC (p.Glu102Serfs*15) variant of the SMAD3 gene creates an early stop codon. It is expected to result in an absent or disrupted protein product. This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Truncating variants in SMAD3 are known to be pathogenic (PMID: 21778426, 24804794). Therefore, the c.303_304insTC (p.Glu102Serfs*15) variant of the SMAD3 gene is classified as likely pathogenic.

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