ClinVar Miner

Submissions for variant NM_000228.3(LAMB3):c.1288+1G>T

dbSNP: rs1186161867
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Counsyl RCV000666447 SCV000790740 likely pathogenic Junctional epidermolysis bullosa gravis of Herlitz 2017-04-06 criteria provided, single submitter clinical testing
Fulgent Genetics, Fulgent Genetics RCV000762877 SCV000893257 likely pathogenic Amelogenesis imperfecta type 1A; Junctional epidermolysis bullosa gravis of Herlitz; Junctional epidermolysis bullosa, non-Herlitz type 2018-10-31 criteria provided, single submitter clinical testing
Invitae RCV002530685 SCV003524004 pathogenic not provided 2023-12-14 criteria provided, single submitter clinical testing This sequence change affects a donor splice site in intron 11 of the LAMB3 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 LAMB3 are known to be pathogenic (PMID: 11023379, 16473856). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with junctional epidermolysis bullosa (PMID: 25708563). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. ClinVar contains an entry for this variant (Variation ID: 551396). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been 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.