ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.763_779dup (p.Phe260fs)

dbSNP: rs1554335128
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000518045 SCV000613454 pathogenic not provided 2017-01-12 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463705 SCV002605068 uncertain risk allele 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 rs1554335128 in MODY, yet.

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