ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.6244G>C (p.Glu2082Gln)

gnomAD frequency: 0.00001  dbSNP: rs1052480459
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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 RCV001027820 SCV001190440 uncertain significance Ectopia lentis 1, isolated, autosomal dominant; Marfan syndrome; MASS syndrome; Stiff skin syndrome; Weill-Marchesani syndrome 2, dominant; Acromicric dysplasia; Geleophysic dysplasia 2; Progeroid and marfanoid aspect-lipodystrophy syndrome 2021-03-30 criteria provided, single submitter clinical testing FBN1 NM_000138.4 exon 50 p.Glu2082Gln (c.6244G>C): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools for this variant are unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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