ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.344dup (p.Met115fs)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005192431 SCV005819165 pathogenic not provided 2024-09-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Met115Ilefs*6) 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: 7553875, 9867845, 14578306, 24323243, 25015100). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with maturity onset diabetes of the young (PMID: 31063852). For these reasons, this variant has been classified as Pathogenic.

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