ClinVar Miner

Submissions for variant NM_000222.3(KIT):c.2454del (p.Asn819fs)

dbSNP: rs1060502521
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 3
Download table as spreadsheet
Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000470229 SCV000549973 pathogenic Gastrointestinal stromal tumor 2023-08-30 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Asn819Metfs*15) in the KIT gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in KIT are known to be pathogenic (PMID: 15194144). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with KIT-related conditions. ClinVar contains an entry for this variant (Variation ID: 409664). For these reasons, this variant has been classified as Pathogenic.
GeneDx RCV004722783 SCV005333898 likely pathogenic not provided 2023-11-29 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); Has not been previously published as pathogenic or benign to our knowledge
PreventionGenetics, part of Exact Sciences RCV004748771 SCV005360018 likely pathogenic KIT-related disorder 2024-08-20 no assertion criteria provided clinical testing The KIT c.2454delG variant is predicted to result in a frameshift and premature protein termination (p.Asn819Metfs*15). To our knowledge, this variant has not been reported in the literature or in a large population database. Frameshift variants in KIT are expected to be pathogenic. This variant is interpreted as likely 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.