ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.483+14A>G

gnomAD frequency: 0.00229  dbSNP: rs74852379
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics RCV000517895 SCV000613437 benign not specified 2016-12-28 criteria provided, single submitter clinical testing
GeneDx RCV000517895 SCV000729803 likely benign not specified 2017-03-22 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.
Labcorp Genetics (formerly Invitae), Labcorp RCV002060239 SCV002462127 benign not provided 2025-01-23 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463700 SCV002605229 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 rs74852379 in MODY, yet.

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