Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
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. |
Gene |
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 |
Prevention |
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. |