ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.701A>G (p.Tyr234Cys)

dbSNP: rs1562715620
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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 RCV000711784 SCV000842181 uncertain significance not provided 2017-12-07 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463731 SCV002605133 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 rs1562715620 in MODY, yet.

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