ClinVar Miner

Submissions for variant NM_001144869.3(LIPT2):c.314T>G (p.Leu105Arg)

gnomAD frequency: 0.00001  dbSNP: rs1190703859
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
SIB Swiss Institute of Bioinformatics RCV000505511 SCV000787454 likely pathogenic Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities, Autosomal Recessive inheritance. The following ACMG Tag(s) were applied: PS3 => Well-established functional studies show a deleterious effect (PMID:28757203). PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PM3 => For recessive disorders, detected in trans with a pathogenic variant (PMID:28757203).
Institute Of Human Genetics Munich, Klinikum Rechts Der Isar, Tu München RCV000505511 SCV001149825 pathogenic Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 2018-01-04 criteria provided, single submitter clinical testing
Institute of Medical Genetics and Applied Genomics, University Hospital Tübingen RCV001268734 SCV001447877 likely pathogenic not provided 2020-10-23 criteria provided, single submitter clinical testing
OMIM RCV000505511 SCV000599793 pathogenic Encephalopathy, neonatal severe, with lactic acidosis and brain abnormalities 2017-09-15 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.