ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.2176G>C (p.Glu726Gln)

gnomAD frequency: 0.00013  dbSNP: rs199691160
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 5
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000996928 SCV001151927 uncertain significance not provided 2019-02-01 criteria provided, single submitter clinical testing
GeneDx RCV000996928 SCV001767947 uncertain significance not provided 2024-05-24 criteria provided, single submitter clinical testing In silico analysis indicates that this missense variant does not alter protein structure/function; Has not been previously published as pathogenic or benign to our knowledge
Labcorp Genetics (formerly Invitae), Labcorp RCV000996928 SCV002310450 uncertain significance not provided 2024-01-29 criteria provided, single submitter clinical testing This sequence change replaces glutamic acid, which is acidic and polar, with glutamine, which is neutral and polar, at codon 756 of the LTBP4 protein (p.Glu756Gln). This variant is present in population databases (rs199691160, gnomAD 0.2%). This variant has not been reported in the literature in individuals affected with LTBP4-related conditions. ClinVar contains an entry for this variant (Variation ID: 808585). Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. 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 RCV002497305 SCV002779459 uncertain significance Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2022-02-14 criteria provided, single submitter clinical testing
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV003235442 SCV003933723 uncertain significance not specified 2023-05-05 criteria provided, single submitter clinical testing

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.