ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6113G>C (p.Cys2038Ser) (rs363804)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000999468 SCV001134993 likely pathogenic Marfan syndrome 2019-12-06 criteria provided, single submitter clinical testing A heterozygous missense variation in exon 50 of the FBN1 gene that results in the aminoacid substitution of Serine for Cysteine at codon 2038 was detected. The observed variant lies in the calcium-binding EGF domain of the FBN1 protein and a different amino acid substitution affecting the same codon (p.Cys2038Tyr) has previously been reported in patients affected with Marfan syndrome (Rommel et al., 2005). The observed variant c.6113 G>C has not been reported in the 1000 genomes and ExAC databases. The in silico prediction of the variant are possibly damaging by PolyPhen-2 (HumDiv) and damaging by LRT and MutationTaster2. The reference codon is conserved across species. In summary, the Cys2038Tyr variant meets our criteria to be classified as a likely pathogenic.

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