ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.914T>G (p.Val305Gly)

dbSNP: rs2096273846
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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 RCV001288186 SCV001475133 uncertain significance not provided 2020-04-09 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463805 SCV002605124 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 rs2096273846 in MODY, yet.

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