ClinVar Miner

Submissions for variant NM_018706.7(DHTKD1):c.104C>T (p.Pro35Leu)

gnomAD frequency: 0.00006  dbSNP: rs753355529
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genomic Research Center, Shahid Beheshti University of Medical Sciences RCV000714644 SCV000845360 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2018-08-07 criteria provided, single submitter clinical testing
Invitae RCV000714644 SCV002307855 uncertain significance 2-aminoadipic 2-oxoadipic aciduria 2024-01-03 criteria provided, single submitter clinical testing This sequence change replaces proline, which is neutral and non-polar, with leucine, which is neutral and non-polar, at codon 35 of the DHTKD1 protein (p.Pro35Leu). This variant is present in population databases (rs753355529, gnomAD 0.009%). This variant has not been reported in the literature in individuals affected with DHTKD1-related conditions. ClinVar contains an entry for this variant (Variation ID: 587471). An algorithm developed to predict the effect of missense changes on protein structure and function (PolyPhen-2) suggests that this variant is likely to be disruptive. 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.
Ambry Genetics RCV002534525 SCV003701782 uncertain significance Inborn genetic diseases 2022-12-01 criteria provided, single submitter clinical testing The c.104C>T (p.P35L) alteration is located in exon 1 (coding exon 1) of the DHTKD1 gene. This alteration results from a C to T substitution at nucleotide position 104, causing the proline (P) at amino acid position 35 to be replaced by a leucine (L). Based on insufficient or conflicting evidence, the clinical significance of this alteration remains unclear.
CeGaT Center for Human Genetics Tuebingen RCV003884714 SCV004698460 uncertain significance not provided 2024-02-01 criteria provided, single submitter clinical testing

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.