Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Invitae | RCV001376863 | SCV001574049 | likely pathogenic | not provided | 2023-07-17 | criteria provided, single submitter | clinical testing | ClinVar contains an entry for this variant (Variation ID: 1065989). This premature translational stop signal has been observed in individuals with autosomal recessive diffuse or paternally inherited focal hyperinsulinism (PMID: 11395395, 22005014, 27181376). This variant has been reported in individual(s) with autosomal dominant familial hyperinsulinism (PMID: 25201519); however, the role of the variant in this condition is currently unclear. This variant is present in population databases (rs557160758, gnomAD 0.004%). This sequence change creates a premature translational stop signal (p.Arg136Alafs*5) in the KCNJ11 gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 255 amino acid(s) of the KCNJ11 protein. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Genetic Services Laboratory, |
RCV001376863 | SCV002067293 | pathogenic | not provided | 2019-03-21 | criteria provided, single submitter | clinical testing | |
Revvity Omics, |
RCV001376863 | SCV003830457 | likely pathogenic | not provided | 2021-12-26 | criteria provided, single submitter | clinical testing | |
Baylor Genetics | RCV003462943 | SCV004198071 | pathogenic | Type 2 diabetes mellitus | 2024-02-02 | criteria provided, single submitter | clinical testing | |
Natera, |
RCV001831333 | SCV002085159 | likely pathogenic | Permanent neonatal diabetes mellitus | 2020-05-15 | no assertion criteria provided | clinical testing |