ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.46-5883dup

gnomAD frequency: 0.99994  dbSNP: rs61641319
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000843826 SCV000985870 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 RCV002463746 SCV002605180 likely 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 rs61641319 in MODY, yet.

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