M1T (p.Met1Thr) variant of SMAD3 (SMAD family member 3)
M1T (p.Met1Thr) in SMAD3 (SMAD family member 3) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as pathogenic/likely pathogenic in the context of Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d. The record also includes published literature and structural context.
M1T (p.Met1Thr) variant details
- p.Met1Thr
- rs2504999773
- ClinGen CA393202669
- ClinVar RCV004016898
- ClinVar RCV006483843
- Pathogenic/Likely pathogenic
- Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneurysm and aortic d
- Missense
- ClinVar: Pathogenic/Likely pathogenic (Aneurysm-osteoarthritis syndrome; Familial thoracic aortic aneur)
- EBI: Pathogenic
- UniProt: Pathogenic
- Structural context available
- Cited in: Loeys-Dietz Syndrome. (PMID 20301312)
- Cited in: ACMG recommendations for reporting of incidental findings in clinical exome and genome sequencing. (PMID 23788249)