ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1003del (p.Val335fs)

dbSNP: rs193922254
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Total submissions: 4
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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 RCV000029829 SCV000052484 likely pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
GeneDx RCV000255354 SCV000322347 pathogenic not provided 2020-06-11 criteria provided, single submitter clinical testing Frameshift variant predicted to result in protein truncation or nonsense mediated decay in a gene for which loss-of-function is a known mechanism of disease; Not observed at a significant frequency in large population cohorts (Lek et al., 2016); This variant is associated with the following publications: (PMID: 23771925)
Knight Diagnostic Laboratories, Oregon Health and Sciences University RCV000255354 SCV001448743 pathogenic not provided 2018-07-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory,University of Chicago RCV000255354 SCV002072045 pathogenic not provided 2019-10-25 criteria provided, single submitter clinical testing DNA sequence analysis of the GCK gene demonstrated a single base pair deletion in exon 8, c.1003del. This pathogenic sequence change results in an amino acid frameshift and creates a premature stop codon 17 amino acids downstream of the mutation, p.Val335Cysfs*18. This pathogenic sequence change is predicted to result in an abnormal transcript, which may be degraded, or may lead to the production of a truncated GCK protein with potentially abnormal function. This pathogenic sequence change has previously been described in a patient with GCK-related hyperglycemia (PMID:23771925).

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