ClinVar Miner

Submissions for variant NM_153033.4(KCTD7):c.68C>T (p.Ala23Val) (rs745360140)

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
GeneDx RCV000188021 SCV000241624 uncertain significance not provided 2014-04-16 criteria provided, single submitter clinical testing p.Ala23Val (GCC>GTC): c.68 C>T in exon 1 of the KCTD7 gene (NM_153033.4) has been identified. The A23V variant has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The A23V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis predicts this variant likely does not alter the protein structure/function. However, this substitution occurs at a position that is conserved across species. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic mutation or a rare benign variant. The variant is found in EPILEPSY panel(s).
Illumina Clinical Services Laboratory,Illumina RCV000317476 SCV000469802 uncertain significance Progressive myoclonic epilepsy 2016-06-14 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.