ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.3413G>T (p.Cys1138Phe)

dbSNP: rs397515791
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Laboratory for Molecular Medicine, Mass General Brigham Personalized Medicine RCV000035169 SCV000058811 likely pathogenic Marfan syndrome 2010-12-06 criteria provided, single submitter clinical testing The 3413G>T (Cys1138Phe) variant has not been previously reported in the literat ure or been identified by our laboratory. Four other variants at this amino aci d position, Cys1138Arg, Cys1138Gly, Cys1138Tyr, and Cys1138Ser, have been report ed in individuals with clinical features consistent with Marfan syndrome (Sthene ur 2009, Comeglio 2009). This variant affects a cysteine residue and cysteine su bstitutions are a common finding in individuals with Marfan syndrome (Schrijver 1999). Cystine at amino acid position 3413 is highly conserved across different species. Therefore, this variant is likely to be pathogenic.
Centre of Medical Genetics, University of Antwerp RCV000035169 SCV002025279 pathogenic Marfan syndrome 2021-03-01 criteria provided, single submitter research PM2, PVS2, PP4

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