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

dbSNP: rs554570575

Total submissions: 6

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_
GeneDx	RCV001591343	SCV001824315	likely benign	not provided	2020-03-12	criteria provided, single submitter	clinical testing
Invitae	RCV001591343	SCV002338454	benign	not provided	2024-01-13	criteria provided, single submitter	clinical testing
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago	RCV003224337	SCV003920164	uncertain significance	Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma	2021-03-30	criteria provided, single submitter	clinical testing	LTBP2:NM_000428:exon3, 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.
PreventionGenetics, part of Exact Sciences	RCV003952927	SCV004770088	likely benign	LTBP2-related condition	2021-02-15	criteria provided, single submitter	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).