ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.148C>T (p.His50Tyr)

dbSNP: rs1562719705
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Unidad de Genómica Médica UC, Pontificia Universidad Católica de Chile RCV000778070 SCV000902454 pathogenic Maturity-onset diabetes of the young type 2 2016-03-07 criteria provided, single submitter research The index case is a patient who presented severe neonatal hyperglycemia (831 mg/dl, without ketosis) requiring continuous infusion of insulin, which was suspended after 48 hours with normalization of blood glucose. Subsequently, continuous glucose monitoring at 4 months of age revealed 47% of tissue glucose levels above 140 mg/dl, with fasting glucose levels between 120 and 166 mg/dl. The genetic analysis revealed a previously reported mutation in heterozygous state of the GCK gene (c.148C>T; p.His50Tyr). This mutation was also identified in more than one affected relative in the last two generations, with a transmission pattern suggestive of dominant inheritance. GCK gene sequencing led to a correct molecular diagnosis of MODY 2 while bioinformatic analysis indicated the possible molecular causes of the enzyme dysfunction. This variant p.(His50Tyr) has been also described by Massa et al., 2001 (PMID: 11508276) and Mantovani et al., 2003 (PMID: 12955723) with a pathogenic status for MODY 2.
Genetic Services Laboratory, University of Chicago RCV001816832 SCV002072074 pathogenic not provided 2017-08-24 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002332563 SCV002601607 likely 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 rs1562719705 in MODY, yet.

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