ClinVar Miner

Submissions for variant NM_024996.7(GFM1):c.114del (p.Gly39_Val40insTer)

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 RCV003112759 SCV003789900 pathogenic not provided 2023-11-25 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Val40*) in the GFM1 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GFM1 are known to be pathogenic (PMID: 16632485, 17160893). This variant is present in population databases (no rsID available, gnomAD 0.007%). This variant has not been reported in the literature in individuals affected with GFM1-related conditions. ClinVar contains an entry for this variant (Variation ID: 2421099). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV003112759 SCV004168239 uncertain significance not provided 2023-04-19 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; Has not been previously published as pathogenic or benign to our knowledge
Baylor Genetics RCV003459779 SCV004199332 likely pathogenic Hepatoencephalopathy due to combined oxidative phosphorylation defect type 1 2023-11-23 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.