ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.1826G>A (p.Arg609His) (rs754162070)

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
Baylor-Hopkins Center for Mendelian Genomics,Johns Hopkins University RCV000225121 SCV000298028 pathogenic You-Hoover-Fong syndrome criteria provided, single submitter research
GeneDx RCV000428453 SCV000534117 likely pathogenic not provided 2016-12-09 criteria provided, single submitter clinical testing The R609H variant in the TELO2 gene has been reported previously in an individual with intellectual disability, microcephaly, seizures, movement disorder, and sleep problems who was compound heterozygous for the R609H variant and another missense variant (You et al., 2016). The R609H variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The R609H variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably damaging to the protein structure/function. Therefore, we interpret R609H as a likely pathogenic variant.
OMIM RCV000225121 SCV000282070 pathogenic You-Hoover-Fong syndrome 2019-09-10 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.