ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1487G>A (p.Gly496Asp)

gnomAD frequency: 0.00048  dbSNP: rs139904243
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV001772598 SCV001993171 uncertain significance not provided 2019-03-18 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports a deleterious effect; Has not been previously published as pathogenic or benign to our knowledge
Invitae RCV001772598 SCV002194397 uncertain significance not provided 2022-09-02 criteria provided, single submitter clinical testing This sequence change replaces glycine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 496 of the LTBP2 protein (p.Gly496Asp). This variant is present in population databases (rs139904243, gnomAD 0.05%). 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: 1307743). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Possibly Damaging"; Align-GVGD: "Class C15"). 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 RCV002506768 SCV002816633 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 2021-11-17 criteria provided, single submitter clinical testing
Ambry Genetics RCV002540324 SCV003695473 uncertain significance Inborn genetic diseases 2021-08-02 criteria provided, single submitter clinical testing The c.1487G>A (p.G496D) alteration is located in exon 7 (coding exon 7) of the LTBP2 gene. This alteration results from a G to A substitution at nucleotide position 1487, causing the glycine (G) at amino acid position 496 to be replaced by an aspartic acid (D). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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