ClinVar Miner

Submissions for variant NM_004859.4(CLTC):c.3373A>G (p.Ile1125Val)

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
Neuberg Centre For Genomic Medicine, NCGM RCV004723693 SCV005329370 uncertain significance Intellectual disability, autosomal dominant 56 2023-05-20 criteria provided, single submitter clinical testing The observed missense c.3373A>G(p.Ile1125Val) variant in CLTC gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Ile1125Val variant is absent in gnomAD Exomes database. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen - Benign, SIFT - Tolerated and MutationTaster - Disease causing) predicts conflicting evidence on protein structure and function for this variant. The amino acid change p.Ile1125Val in CLTC is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Ile at position 1125 is changed to a Val changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Variant of Uncertain Significance (VUS).

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.