ClinVar Miner

Submissions for variant NM_000525.4(KCNJ11):c.405dup (p.Arg136fs)

dbSNP: rs557160758
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Total submissions: 5
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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, University of Chicago RCV001376863 SCV002067293 pathogenic not provided 2019-03-21 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV001376863 SCV003830457 likely pathogenic not provided 2021-12-26 criteria provided, single submitter clinical testing
Baylor Genetics RCV003462943 SCV004198071 pathogenic Type 2 diabetes mellitus 2022-10-25 criteria provided, single submitter clinical testing
Natera, Inc. RCV001831333 SCV002085159 likely pathogenic Permanent neonatal diabetes mellitus 2020-05-15 no assertion criteria provided clinical testing

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