ClinVar Miner

Submissions for variant NM_018006.5(TRMU):c.814G>A (p.Gly272Ser)

gnomAD frequency: 0.00001  dbSNP: rs1230867178
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
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000756815 SCV000884735 uncertain significance not provided 2018-04-20 criteria provided, single submitter clinical testing The TRMU c.814G>A; p.Gly272Ser variant, to our knowledge, is not reported in the medical literature, gene specific variation databases, nor has it been previously identified by our laboratory; however, another variant affecting this amino acid, Gly272Asp, has been linked in one patient to an increased risk of infantile liver failure (Zeharia 2009). This variant is listed in the genome Aggregation Database (gnomAD) with an overall population frequency of 0.0007% (identified on 2 out of 277,196 chromosomes). The glycine at position 272 is moderately conserved, considering 12 species, and computational analyses of the effects of the p.Gly272Ser variant on protein structure and function make conflicting predictions (SIFT: tolerated, PolyPhen-2: possibly damaging). Based on the available information, the clinical significance of the p.Gly272Ser variant cannot be determined with certainty.
Natera, Inc. RCV001830652 SCV002076158 uncertain significance Acute infantile liver failure due to synthesis defect of mtDNA-encoded proteins 2021-10-04 no assertion criteria provided 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.