ClinVar Miner

Submissions for variant NM_016111.4(TELO2):c.1382C>T (p.Thr461Met)

dbSNP: rs199748546
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
Baylor Genetics RCV001336324 SCV001529681 uncertain significance TELO2-related intellectual disability-neurodevelopmental disorder 2018-02-23 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV002547354 SCV003279137 uncertain significance not provided 2022-06-21 criteria provided, single submitter clinical testing This sequence change replaces threonine, which is neutral and polar, with methionine, which is neutral and non-polar, at codon 461 of the TELO2 protein (p.Thr461Met). This variant is present in population databases (rs199748546, gnomAD 0.03%). This variant has not been reported in the literature in individuals affected with TELO2-related conditions. ClinVar contains an entry for this variant (Variation ID: 1033803). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be tolerated. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.

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.