G70V (p.Gly70Val) variant of FBN1 (Fibrillin-1)
G70V (p.Gly70Val) in FBN1 (Fibrillin-1) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as conflicting interpretations in the context of Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome. The record also includes published literature.
G70V (p.Gly70Val) variant details
- p.Gly70Val
- rs2505779180
- ClinGen CA392448397
- ClinVar RCV002424179
- ClinVar RCV003101054
- Conflicting interpretations
- Familial thoracic aortic aneurysm and aortic dissection; Marfan syndrome
- Missense
- ClinVar: Conflicting classifications of pathogenicity (Familial thoracic aortic aneurysm and aortic dissection; Marfan)
- EBI: Pathogenic
- UniProt: 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)