ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4250A>G (p.Gln1417Arg)

gnomAD frequency: 0.00001  dbSNP: rs137854863
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV002514571 SCV003520300 uncertain significance not provided 2022-08-20 criteria provided, single submitter clinical testing This sequence change replaces glutamine, which is neutral and polar, with arginine, which is basic and polar, at codon 1417 of the LTBP2 protein (p.Gln1417Arg). This variant is present in population databases (rs137854863, gnomAD 0.05%). This missense change has been observed in individual(s) with LTBP2-related conditions (PMID: 26425313). ClinVar contains an entry for this variant (Variation ID: 126955). 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 tolerated. 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.
Elahi Laboratory, University of Tehran RCV000114812 SCV000148707 probable-pathogenic Primary open angle glaucoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.

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