ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.844-1G>T

gnomAD frequency: 0.00001  dbSNP: rs777469885
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 2
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000170529 SCV000754923 pathogenic Multiple gastrointestinal atresias 2025-01-29 criteria provided, single submitter clinical testing This sequence change affects an acceptor splice site in intron 6 of the TTC7A 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 TTC7A are known to be pathogenic (PMID: 23830146, 24292712). This variant is present in population databases (rs777469885, gnomAD 0.007%). Disruption of this splice site has been observed in individual(s) with severe apoptotic enterocolitis (PMID: 24417819, 25534311). 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: 190391). 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.
OMIM RCV004562390 SCV000223094 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2014-04-01 no assertion criteria provided literature only

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.