ClinVar Miner

Submissions for variant NM_000213.5(ITGB4):c.5218+2T>C

dbSNP: rs780675808
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000668237 SCV000792809 uncertain significance Deficiency of galactokinase 2017-07-17 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV001536079 SCV001752780 likely pathogenic Junctional epidermolysis bullosa with pyloric atresia; Epidermolysis bullosa simplex 1C, localized; Junctional epidermolysis bullosa, non-Herlitz type 2021-06-30 criteria provided, single submitter clinical testing
Arcensus RCV002466260 SCV002564585 likely pathogenic Epidermolysis bullosa, junctional 5A, intermediate 2013-02-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003767961 SCV004670467 likely pathogenic not provided 2023-05-15 criteria provided, single submitter clinical testing In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site. ClinVar contains an entry for this variant (Variation ID: 552889). This variant has not been reported in the literature in individuals affected with ITGB4-related conditions. This variant is present in population databases (no rsID available, gnomAD 0.006%). This sequence change affects a donor splice site in intron 37 of the ITGB4 gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in ITGB4 are known to be pathogenic (PMID: 11328943, 16473856).

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.