ClinVar Miner

Submissions for variant NM_000428.3(LTBP2):c.1686+3G>A

gnomAD frequency: 0.00049  dbSNP: rs190814774
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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000731541 SCV000859373 uncertain significance not provided 2018-02-08 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001121189 SCV001279749 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Illumina Laboratory Services, Illumina RCV001121190 SCV001279750 uncertain significance 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). No publications were found based on this search. Allele frequency data from public databases did not allow this variant to be ruled in or out of causing disease. Therefore, this variant is classified as a variant of unknown significance.
Invitae RCV000731541 SCV002217930 uncertain significance not provided 2022-10-17 criteria provided, single submitter clinical testing This sequence change falls in intron 7 of the LTBP2 gene. It does not directly change the encoded amino acid sequence of the LTBP2 protein. It affects a nucleotide within the consensus splice site. This variant is present in population databases (rs190814774, gnomAD 0.1%). 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: 595867). Variants that disrupt the consensus splice site are a relatively common cause of aberrant splicing (PMID: 17576681, 9536098). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant is not likely to affect RNA splicing. 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 RCV002507297 SCV002816366 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 2021-10-01 criteria provided, single submitter clinical testing

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