ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.804_821dup (p.265_270PQSPPA[3]) (rs554570575)

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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 RCV000576774 SCV000678211 uncertain significance Weill-Marchesani syndrome 3 2017-08-01 criteria provided, single submitter clinical testing LTBP2 NM_000428.2 exon3 p.Pro271_Ala276dup(c.804_821dup): 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 limited or unavailable. This variant represents an in-frame duplication of 6 amino acids at position 271 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV000768013 SCV000898805 uncertain significance Microspherophakia; Glaucoma 3, primary congenital, d; Weill-Marchesani syndrome 3 2017-08-16 criteria provided, single submitter clinical testing LTBP2 NM_000428.2 exon 3 p. Ala276_Gly277insProGlnSerProProAla (c.821_822insGCCCGCACCACAGTCGCC): This variant has not been reported in the literature, but is present in 0.7% (180/2400) of African individuals in the Genome Aggregation Database (http://gnomad.broadinstitute.org/rsrs554570575). Evolutionary conservation and computational predictive tools for this variant are unavailable. This variant represents an in-frame insertion of 6 amino acids at position 276 and is not predicted to alter the reading frame. However, the effect of this variant on the protein is unclear. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain._x000D_

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