ClinVar Miner

Submissions for variant NM_000744.7(CHRNA4):c.1113_1114insTATG (p.Ile372fs)

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
Diagnostics Services (NGS), CSIR - Centre For Cellular And Molecular Biology RCV002465048 SCV002759441 likely pathogenic Autosomal dominant nocturnal frontal lobe epilepsy 1 2022-06-22 criteria provided, single submitter clinical testing The c.1113_1114insTATG variant is not present in publicly available population databases like 1000 Genomes, Exome Variant Server (EVS), Genome Aggregation Database (gnomAD) and Indian Exome Database. The variant is not present in our in-house exome database. The variant was not reported to ClinVar, Human Genome Mutation Database (HGMD) and/or OMIM databases in any affected individuals. In-silico pathogenicity prediction programs like MutationTaster2, CADD etc. predicted this variant to be likely deleterious. The variant causes frameshift at the 372th amino acid position of the wild-type transcript which creates a translational premature stop signal at the 378th amino acid position of the altered transcript that either may causes nonsense mediated decay of the mRNA or results in translating a truncated protein.

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.