ClinVar Miner

Submissions for variant NM_014233.4(UBTF):c.628G>A (p.Glu210Lys) (rs1555582065)

Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 6
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Mark LeDoux Lab, University of Tennessee Health Science Center RCV000504592 SCV000598648 pathogenic UBTF E210K Neuroregression Syndrome 2017-09-02 criteria provided, single submitter clinical testing Patient fibroblasts showed normal levels of UBTF transcript, increased expression of pre-rRNA and 18S rRNA, nucleolar abnormalities, markedly increased numbers of DNA breaks, defective cell-cycle progression, and apoptosis. Expression of mutant human UBTF NM_014233.3:c.628G>A cDNA in Drosophila neurons was lethal.
Undiagnosed Diseases Program Translational Research Laboratory,National Institutes of Health RCV000625527 SCV000599454 likely pathogenic Infantile or childhood onset neurodegenerative disease, global developmental delay, and intellectual disability 2017-09-11 criteria provided, single submitter research We have 3 patients with similar clinical phenotype, not otherwise associated with other genes, shown to harbor this particular variant that was found by exome sequencing.
Institute of Human Genetics,Klinikum rechts der Isar RCV000505522 SCV000680424 pathogenic NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 2017-12-11 criteria provided, single submitter clinical testing
SIB Swiss Institute of Bioinformatics RCV000505522 SCV000787458 likely pathogenic NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 2018-04-16 criteria provided, single submitter curation This variant is interpreted as a Likely Pathogenic, for Neurodegeneration, childhood-onset, with brain atrophy, Autosomal Dominant inheritance. The following ACMG Tag(s) were applied: PM2 => Absent from controls (or at extremely low frequency if recessive) in Exome Sequencing Project, 1000 Genomes Project, or Exome Aggregation Consortium. PP3 => Multiple lines of computational evidence support a deleterious effect on the gene or gene product. PS3 => Well-established functional studies show a deleterious effect (PMID:28777933). PM6 => Assumed de novo, but without confirmation of paternity and maternity (PMID:28777933).
OMIM RCV000505522 SCV000599783 pathogenic NEURODEGENERATION, CHILDHOOD-ONSET, WITH BRAIN ATROPHY 2018-08-31 no assertion criteria provided literature only
GenomeConnect, ClinGen RCV000845031 SCV000986866 not provided UBTF-Related Disorder no assertion provided phenotyping only Variant interpretted as pathogenic and reported on 09/21/2018 by GTR ID 26957. GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

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.