ClinVar Miner

Submissions for variant NM_001042545.2(LTBP4):c.1828C>T (p.Gln610Ter)

dbSNP: rs1568406407
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000779629 SCV000899108 pathogenic Cutis laxa with severe pulmonary, gastrointestinal and urinary anomalies 2019-04-12 criteria provided, single submitter clinical testing The observed homozygous variant NM_001042544.1:c.2029C>T (p.R677*) is found in exon 13 of the LTBP4 gene. It is a null variant in a gene where loss of function is a known mechanism of disease and has not been found absent in general population (0.00% AFC South Asian frequency and ECGldb). Multiple lines of computational evidence support a deleterious effect of this variant on the gene or gene product. In summary, the R677* variant meets our criteria to be classified as pathogenic.

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.