ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.2695G>A (p.Ala899Thr)

gnomAD frequency: 0.00002  dbSNP: rs767599280
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 1
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001977123 SCV002251820 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-07-19 criteria provided, single submitter clinical testing This variant is present in population databases (rs767599280, ExAC 0.009%). This sequence change replaces alanine with threonine at codon 899 of the DHTKD1 protein (p.Ala899Thr). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and threonine. This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. 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 disruptive.

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.