P.met2864ile Variant

General
1

Hello together,

I am writing with a question about the variant listed in ClinVar with Variation ID 1935813. In ClinVar, this variant is associated with the following conditions: Marfan syndrome, familial thoracic aortic aneurysm, and aortic dissection.

I would like to clarify:

  1. Does gnomAD have any data indicating that individuals carrying this variant were clinically diagnosed with Marfan syndrome or related FBN1-associated conditions?

  2. How should the variant currently be interpreted in terms of pathogenicity or benignity, based on gnomAD population data?

  3. Regarding the term “Condition” as used in ClinVar or similar databases, does it specifically refer to individuals who have both the variant and the disease, or is it primarily the context in which the variant was reported/evaluated?

Any clarification on these points would be greatly appreciated.

Thank you very much for your time and assistance.