ClinVar Miner

Submissions for variant NM_001999.4(FBN2):c.3514G>T (p.Gly1172Cys) (rs138303817)

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Total submissions: 1
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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 RCV000576844 SCV000678220 likely pathogenic Congenital contractural arachnodactyly 2017-08-01 criteria provided, single submitter clinical testing FBN2 NM_001999.3 exon27 p.Gly1172Cys (c.3514G>T): This variant has not been reported in the literature, but has been identified de novo by our laboratory in 1 individual with clinical features of Marfan related disorders. This variant is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. In summary, data on this variant is highly suspicious for disease, but requires further evidence for pathogenicity. Therefore, this variant classified as likely pathogenic.

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