ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1173C>A (p.Asn391Lys)

dbSNP: rs1554334579
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000502737 SCV000594948 likely pathogenic Maturity-onset diabetes of the young type 2 2017-02-15 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463691 SCV002605082 likely 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 rs1554334579 in MODY, yet.

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