ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.393del (p.Asp132fs)

dbSNP: rs193922295
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029879 SCV000052534 likely pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002371785 SCV002605289 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 rs193922295 in MODY, yet.
Ambry Genetics RCV002371785 SCV002626051 pathogenic Maturity onset diabetes mellitus in young 2016-04-14 criteria provided, single submitter clinical testing The c.393delC pathogenic mutation, located in coding exon 4 of the GCK gene, results from a deletion of one nucleotide at nucleotide position 393, causing a translational frameshift with a predicted alternate stop codon (p.D132Tfs*8). 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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