ClinVar Miner

Submissions for variant NM_021096.4(CACNA1I):c.1322A>T (p.Tyr441Phe)

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 RCV004764884 SCV005374816 uncertain significance Neurodevelopmental disorder with speech impairment and with or without seizures criteria provided, single submitter clinical testing The observed missense c.1322A>T (p.Tyr441Phe) variant in CACNA1I gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.Tyr441Phe variant is absent in gnomAD Exomes. This variant has not been submitted to the ClinVar database. Computational evidence (Polyphen - Probably Damaging, SIFT - Damaging and MutationTaster - Polymorphism) predicts conflicting evidence on protein structure and function for this variant. The reference amino acid of p.Tyr441Phe in CACNA1I is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Tyr at position 441 is changed to a Phe changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as a 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.