ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.5800T>C (p.Cys1934Arg)

dbSNP: rs1555395767
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre of Medical Genetics, University of Antwerp RCV002246040 SCV002025362 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS2, PP4
Dr. med. U. Finckh, Human Genetics, Eurofins MVZ RCV002246040 SCV004037244 likely pathogenic Marfan syndrome 2019-12-14 criteria provided, single submitter clinical testing The variant is not present in gnomAD. It was detected in an individual with suspected Marfan syndrome. Several other missense variants of this codon have been reported to be pathogenic. In silico analysis strongly support a damaging effect of the variant. We therefore classify it as likely pathogenic.

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