ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5353_5354del (p.Met1785fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Molecular Genetics Laboratory, Motol Hospital RCV004781960 SCV005393832 likely pathogenic Marfan syndrome 2024-11-06 criteria provided, single submitter clinical testing This variant was detected in a male with phenotype with partial overlap with Marfan syndrome. The variant was confirmed to be of a de novo origin. Rare truncating variants affecting the FBN1 gene are well documented as a molecular cause of Marfan syndrome (OMIM:154700) (PMID:30048161;26796135). To conclude, the variant is classified as pathogenic (ACMG PVS1, PM2, PS2).

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