ClinVar Miner

Submissions for variant NM_000138.5(FBN1):c.1964C>T (p.Thr655Ile)

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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 RCV003224675 SCV003919949 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 2022-10-18 criteria provided, single submitter clinical testing This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational prediction tools suggest that this variant may impact the protein. Additionally, the FBN1 gene has a gnomAD missense constraint z-score of 5.06, suggesting that benign missense variation in FBN1 is uncommon (Lek 2016 PMID: 27535533). In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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