ClinVar Miner

Submissions for variant NM_017547.4(FOXRED1):c.608_609del (p.Glu203fs)

dbSNP: rs1189650128
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
The Molecular Genetic and Pathologic Diagnosis Center of Neuromuscular Disorder, Children's Hospital of Fudan University RCV001249212 SCV001422466 pathogenic Leigh syndrome 2019-12-01 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV003660870 SCV004375509 pathogenic not provided 2023-10-12 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Glu203Glyfs*16) in the FOXRED1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in FOXRED1 are known to be pathogenic (PMID: 20818383, 20858599). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with FOXRED1-related conditions (PMID: 32348839, 32712949). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may disrupt the consensus splice site. For these reasons, this variant has been classified as Pathogenic.

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.