ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.3850C>T (p.Arg1284Cys)

gnomAD frequency: 0.00001  dbSNP: rs141033298
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196474 SCV001367082 uncertain significance Glaucoma 3, primary infantile, B 2020-01-26 criteria provided, single submitter clinical testing This variant was classified as: Uncertain significance. The following ACMG criteria were applied in classifying this variant: PM2,PP3.
Invitae RCV001863108 SCV002135474 uncertain significance not provided 2021-07-24 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 930655). This variant has not been reported in the literature in individuals affected with LTBP2-related conditions. This variant is present in population databases (rs141033298, ExAC 0.01%). This sequence change replaces arginine with cysteine at codon 1284 of the LTBP2 protein (p.Arg1284Cys). The arginine residue is highly conserved and there is a large physicochemical difference between arginine and cysteine.

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