ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1163dup (p.Val389fs)

dbSNP: rs886042015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000297077 SCV000330846 pathogenic not provided 2016-10-03 criteria provided, single submitter clinical testing The c.1163dupG pathogenic variant in the GCK gene causes a frameshift starting with codon Valine 389, changes this amino acid to an Arginine residue and creates a premature Stop codon at position 70 of the new reading frame, denoted p.Val389ArgfsX70. This pathogenic variant is predicted to cause loss of normal protein function either through protein truncation or nonsense-mediated mRNA decay. The variant was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463671 SCV002605081 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 rs886042015 in MODY, yet.

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