ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.626C>T (p.Ser209Leu)

gnomAD frequency: 0.00003  dbSNP: rs780598300
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
Ambry Genetics RCV000623083 SCV000741192 uncertain significance Inborn genetic diseases 2015-11-19 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001855294 SCV002214171 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2021-08-30 criteria provided, single submitter clinical testing 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. ClinVar contains an entry for this variant (Variation ID: 520868). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. This variant is present in population databases (rs780598300, ExAC 0.05%). This sequence change replaces serine with leucine at codon 209 of the DHTKD1 protein (p.Ser209Leu). The serine residue is moderately conserved and there is a large physicochemical difference between serine and leucine. 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.