ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.295del (p.Trp99fs)

dbSNP: rs1554335752
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502155 SCV000594956 pathogenic Maturity-onset diabetes of the young type 2 2015-08-20 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002438219 SCV002605367 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 rs1554335752 in MODY, yet.
Ambry Genetics RCV002438219 SCV002750077 pathogenic Maturity onset diabetes mellitus in young 2018-08-07 criteria provided, single submitter clinical testing The c.295delT pathogenic mutation, located in coding exon 3 of the GCK gene, results from a deletion of one nucleotide at nucleotide position 295, causing a translational frameshift with a predicted alternate stop codon (p.W99Gfs*3). This alteration is expected to result in loss of function by premature protein truncation or nonsense-mediated mRNA decay. As such, this alteration is interpreted as a disease-causing mutation.

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