ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.359dup (p.Met121fs)

dbSNP: rs2128822614
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV001387680 SCV001588352 pathogenic not provided 2020-10-19 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. This variant has not been reported in the literature in individuals with GCK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Met121Aspfs*8) in the GCK gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in GCK are known to be pathogenic (PMID: 24323243).
MGZ Medical Genetics Center RCV002290704 SCV002580708 likely pathogenic Permanent neonatal diabetes mellitus 1 2022-01-17 criteria provided, single submitter clinical testing

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