ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.4769T>C (p.Val1590Ala)

gnomAD frequency: 0.00769  dbSNP: rs139932140
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000951312 SCV001097703 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001118723 SCV001277026 uncertain significance Glaucoma 3, primary congenital, D 2017-04-27 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 Laboratory Services, Illumina RCV001118724 SCV001277027 benign Weill-Marchesani syndrome 2017-04-27 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. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.
GeneDx RCV000951312 SCV001875051 likely benign not provided 2021-03-08 criteria provided, single submitter clinical testing
CeGaT Center for Human Genetics Tuebingen RCV000951312 SCV004033346 benign not provided 2023-07-01 criteria provided, single submitter clinical testing LTBP2: BS1, BS2
Genome Diagnostics Laboratory, Amsterdam University Medical Center RCV001796325 SCV002035182 benign not specified no assertion criteria provided clinical testing
Laboratory of Diagnostic Genome Analysis, Leiden University Medical Center (LUMC) RCV000951312 SCV002035953 likely benign not provided no assertion criteria provided clinical testing

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