ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4942G>A (p.Gly1648Arg)

gnomAD frequency: 0.00005  dbSNP: rs370119182
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001979961 SCV002219121 uncertain significance not provided 2022-07-28 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1648 of the LTBP2 protein (p.Gly1648Arg). This variant is present in population databases (rs370119182, gnomAD 0.02%). This variant has not been reported in the literature in individuals affected with LTBP2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1447800). 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 RCV002507673 SCV002815792 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 2022-03-14 criteria provided, single submitter clinical testing

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