ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.864-105G>A

gnomAD frequency: 0.00743  dbSNP: rs139242745
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000837378 SCV000979231 likely benign not provided 2018-06-14 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463745 SCV002605130 benign 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 rs139242745 in MODY, yet.
Breakthrough Genomics, Breakthrough Genomics RCV000837378 SCV005227295 likely benign not provided criteria provided, single submitter not provided

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