ClinVar Miner

Submissions for variant NM_000138.4(FBN1):c.2287T>G (p.Cys763Gly) (rs1555399361)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000767973 SCV000898700 uncertain significance Ectopia lentis, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2; Acromicric dysplasia; Geleophysic dysplasia 2; Marfan lipodystrophy syndrome 2018-05-21 criteria provided, single submitter clinical testing FBN1 NM_000138.4 exon19 p.Cys763Gly (c.2287T>G): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Of note, this variant is predicted to affect a cysteine residue. Cysteine in the FBN1 gene is reported to have important functional relevance; variants that involve a cysteine residue are reported to be particularly significant (Dietz 2017 PMID: 20301510). However, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Medical Genetics Ghent,University of Ghent RCV000663525 SCV000786834 likely pathogenic Marfan syndrome 2017-11-07 no assertion criteria provided clinical testing

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