ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1178T>C (p.Met393Thr)

dbSNP: rs2096271425
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Goettingen RCV001261199 SCV001438069 likely pathogenic Maturity-onset diabetes of the young type 2 2020-09-21 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463795 SCV002605079 likely risk allele 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 rs2096271425 in MODY, yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV001261199 SCV005077261 pathogenic Maturity-onset diabetes of the young type 2 2024-04-18 criteria provided, single submitter clinical testing Variant summary: GCK c.1178T>C (p.Met393Thr) results in a non-conservative amino acid change located in the Hexokinase, C-terminal domain (IPR022673) of the encoded protein sequence. Three of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 225042 control chromosomes (gnomAD). c.1178T>C has been reported in the literature in multiple individuals affected with Maturity Onset Diabetes Of The Young 2/Neonatal Diabetes Mellitus (e.g. Osbak_2009, Flanagan_2014, Aglagioglu_2016, Breidbart_2021). These data indicate that the variant is very likely to be associated with disease. The following publications have been ascertained in the context of this evaluation (PMID: 19790256, 26669242, 33852230, 24411943). ClinVar contains an entry for this variant (Variation ID: 981653). Based on the evidence outlined above, the variant was classified as pathogenic.

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