ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.112C>T (p.Gln38Ter)

dbSNP: rs878853246
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464012 SCV002605424 pathogenic Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs878853246 in MODY, yet.
Labcorp Genetics (formerly Invitae), Labcorp RCV002516247 SCV003225463 pathogenic not provided 2022-08-20 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 236192). This premature translational stop signal has been observed in individual(s) with clinical features of GCK-related conditions (PMID: 26669242). This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Gln38*) 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).
Shenzhen Institute of Pediatrics, Shenzhen Children's Hospital RCV000225041 SCV000282026 pathogenic Maturity-onset diabetes of the young type 2 2016-04-13 no assertion criteria provided clinical testing

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