R954L (p.Arg954Leu) variant of FBN1 (Fibrillin-1)
R954L (p.Arg954Leu) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes published literature.
R954L (p.Arg954Leu) variant details
- p.Arg954Leu
- rs112911555
- ClinGen CA392330204
- ClinVar RCV001331011
- ClinVar RCV003770832
- Likely pathogenic
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- ClinVar: Likely pathogenic (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic (found in a patient with Marfan-like syndrome)
- UniProt: Pathogenic (found in a patient with Marfan-like syndrome)
- Cited in: Heritable Thoracic Aortic Disease Overview. (PMID 20301299)
- Cited in: Canadian Cardiovascular Society position statement on the management of thoracic aortic disease. (PMID 24882528)