ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1295C>T (p.Pro432Leu) (rs137854861)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000971799 SCV001119467 benign not provided 2019-12-31 criteria provided, single submitter clinical testing
Mendelics RCV000989244 SCV001139486 uncertain significance Weill-Marchesani syndrome 3 2019-05-28 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV001117709 SCV001275927 uncertain significance Glaucoma 3, primary congenital, d 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. However, the evidence from the literature, in combination with allele frequency data from public databases where available, was not sufficient to rule this variant in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Clinical Services Laboratory,Illumina RCV001117710 SCV001275928 benign Weill-Marchesani syndrome 2017-04-28 criteria provided, single submitter clinical testing This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases was too high to be consistent with this variant causing disease. Therefore, this variant is classified as benign.
Elahi Laboratory, University of Tehran RCV000114805 SCV000148700 probable-pathogenic Pseudoexfoliation glaucoma no assertion criteria provided not provided Converted during submission to Likely pathogenic.
Reproductive Health Research and Development,BGI Genomics RCV000114805 SCV001142442 uncertain significance Pseudoexfoliation glaucoma 2020-01-06 no assertion criteria provided curation NM_000428.2:c.1295C>T in the LTBP2 gene has an allele frequency of 0.008 in South Asian subpopulation in the gnomAD database. The c.1295C>T (p.Pro432Leu) variant has been observed in a patient affected with pseudoexfoliation glaucoma (PEXG) syndrome (PMID: 23401661). We interpret it as variant of uncertain significance (VUS). ACMG/AMP criteria applied: PP4.

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