ClinVar Miner

Submissions for variant NM_000359.3(TGM1):c.2090T>G (p.Leu697Ter)

dbSNP: rs747781875
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001959145 SCV002239509 pathogenic not provided 2022-09-06 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 1459722). This premature translational stop signal has been observed in individual(s) with TGM1-related conditions (PMID: 18948357, 19241467). This variant is present in population databases (rs747781875, gnomAD 0.0009%). This sequence change creates a premature translational stop signal (p.Leu697*) in the TGM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in TGM1 are known to be pathogenic (PMID: 18948357, 19241467).
GeneDx RCV001959145 SCV004023597 pathogenic not provided 2023-01-31 criteria provided, single submitter clinical testing Nonsense 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: 25525159, 18948357, 19241467)
Baylor Genetics RCV003475257 SCV004203823 pathogenic Autosomal recessive congenital ichthyosis 1 2022-08-16 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.