ClinVar Miner

Submissions for variant NM_000208.4(INSR):c.1246C>T (p.Arg416Ter)

gnomAD frequency: 0.00001  dbSNP: rs778989302
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
Labcorp Genetics (formerly Invitae), Labcorp RCV001949639 SCV002238408 pathogenic not provided 2021-09-15 criteria provided, single submitter clinical testing This variant is also known as R389X. This sequence change creates a premature translational stop signal (p.Arg416*) in the INSR gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in INSR are known to be pathogenic (PMID: 12023989, 26160152). This variant is not present in population databases (ExAC no frequency). This premature translational stop signal has been observed in individual(s) with Leprechaunism (PMID: 16705075). For these reasons, this variant has been classified as Pathogenic.

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.