ClinVar Miner

Submissions for variant NM_020458.4(TTC7A):c.911del (p.Leu304fs)

gnomAD frequency: 0.00001  dbSNP: rs1558551117
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
GeneDx RCV001571823 SCV001796361 likely pathogenic not provided 2024-02-13 criteria provided, single submitter clinical testing Observed with a likely pathogenic variant on the opposite allele (in trans) in and individual with inflammatory bowel disease in published literature (PMID: 25174867); Observed in an individual with inflammatory bowel disease who harbored a second TTC7A variant, but it is not known whether the variants occurred on the same (in cis) or on different (in trans) chromosomes (PMID: 31743734); Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 31743734, 25174867, 27535533, 32888943)
Fulgent Genetics, Fulgent Genetics RCV005023200 SCV005661076 pathogenic Gastrointestinal defects and immunodeficiency syndrome 1 2024-05-09 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.