ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.1382C>G (p.Thr461Arg)

dbSNP: rs201559023
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 RCV001331063 SCV001522983 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2019-03-01 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Labcorp Genetics (formerly Invitae), Labcorp RCV001331063 SCV002196455 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-04-30 criteria provided, single submitter clinical testing 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. 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, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. This variant has not been reported in the literature in individuals with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 1029712). This variant is present in population databases (rs201559023, ExAC 0.002%). This sequence change replaces threonine with arginine at codon 461 of the DHTKD1 protein (p.Thr461Arg). The threonine residue is moderately conserved and there is a moderate physicochemical difference between threonine and arginine.

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.