ClinVar Miner

Submissions for variant NM_021942.6(TRAPPC11):c.1353G>T (p.Met451Ile)

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
Revvity Omics, Revvity RCV003141164 SCV003823419 uncertain significance Autosomal recessive limb-girdle muscular dystrophy type R18 2019-03-11 criteria provided, single submitter clinical testing
Ambry Genetics RCV004246081 SCV004971920 uncertain significance Inborn genetic diseases 2024-01-02 criteria provided, single submitter clinical testing The c.1353G>T (p.M451I) alteration is located in exon 13 (coding exon 12) of the TRAPPC11 gene. This alteration results from a G to T substitution at nucleotide position 1353, causing the methionine (M) at amino acid position 451 to be replaced by an isoleucine (I). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.

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.