ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6744_6746del (p.Glu2248del)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
deCODE genetics, Amgen RCV003329131 SCV003915954 likely pathogenic Marfan syndrome 2023-04-10 no assertion criteria provided case-control The p.(Glu2248del) variant was identified in two family members diagnosed with Marfan syndrome. It was further found to associate with thoracid aortic aneurysm (p-value 0.004; OR 95.2). Applied ACMG criteria: PS4, PM2, PP2, PP4

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