ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4772C>T (p.Thr1591Ile)

gnomAD frequency: 0.00010  dbSNP: rs745626701
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002022713 SCV002292251 uncertain significance not provided 2021-08-27 criteria provided, single submitter clinical testing This sequence change replaces threonine with isoleucine at codon 1591 of the LTBP2 protein (p.Thr1591Ile). The threonine residue is highly conserved and there is a moderate physicochemical difference between threonine and isoleucine. This variant is present in population databases (rs745626701, ExAC 0.02%). This variant has not been reported in the literature in individuals affected with LTBP2-related conditions. 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. 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.
Fulgent Genetics, Fulgent Genetics RCV002479740 SCV002789132 uncertain significance Glaucoma 3, primary infantile, B; Glaucoma 3, primary congenital, D; Weill-Marchesani syndrome 3; Microspherophakia and/or megalocornea, with ectopia lentis and with or without secondary glaucoma 2021-11-12 criteria provided, single submitter clinical testing
GeneDx RCV002022713 SCV003933258 uncertain significance not provided 2022-12-08 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Has not been previously published as pathogenic or benign to our knowledge

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