ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.2354C>A (p.Pro785His)

dbSNP: rs956678986
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
DASA RCV002052293 SCV002318965 likely pathogenic Marfan syndrome 2022-03-25 criteria provided, single submitter clinical testing The variant is located in a mutational hot spot and/or critical and well-established functional domain (EGF_CA; cEGF) - PM1. This variant is not present in population databases (rs956678986- gnomAD; ABraOM no frequency - http://abraom.ib.usp.br.) - PM2. Missense variant in FBN1 that has a low rate of benign missense variation and in which missense variants are a common mechanism of disease - PP2. Multiple lines of computational evidence support a deleterious effect on the gene or gene product - PP3. In summary, the currently available evidence indicates that the variant is likely pathogenic

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