ClinVar Miner

Submissions for variant NM_005902.4(SMAD3):c.2T>C (p.Met1Thr)

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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 RCV004016898 SCV004834520 likely pathogenic Aneurysm-osteoarthritis syndrome 2024-01-09 criteria provided, single submitter clinical testing The c.2T>C (p.Met1?) variant of the SMAD3 gene creates a start loss, resulting in a disrupted protein product. This variant has been reported in a patient with adolescent idiopathic scoliosis (PMID: 26333736). His maternal grandfather had a history of aortic aneurysm and the proband's mother, who also had this variant, had bilateral knee arthritis diagnosed at the age of forty-two years (PMID: 26333736). This variant has not been identified in the general population by the Genome Aggregation Database (gnomAD). Therefore, the c.2T>C (p.Met1?) variant of the SMAD3 gene is classified as likely pathogenic.

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