G1754D (p.Gly1754Asp) variant of FBN1 (Fibrillin-1)
G1754D (p.Gly1754Asp) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as likely pathogenic in the context of Weill-Marchesani syndrome 2, dominant; Marfan syndrome; Familial thoracic aortic. The record also includes published literature.
G1754D (p.Gly1754Asp) variant details
- p.Gly1754Asp
- rs2505485551
- ClinGen CA392348025
- ClinVar RCV003307350
- ClinVar RCV003777270
- Likely pathogenic
- Weill-Marchesani syndrome 2, dominant; Marfan syndrome; Familial thoracic aortic
- Missense
- ClinVar: Likely pathogenic (Weill-Marchesani syndrome 2, dominant; Marfan syndrome; Familial)
- EBI: Likely pathogenic
- UniProt: Likely pathogenic
- 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)