ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.187C>T (p.Arg63Cys)

gnomAD frequency: 0.00001  dbSNP: rs754479025
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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 Inc RCV000518077 SCV000613417 uncertain significance not specified 2017-04-03 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464230 SCV002605381 uncertain risk allele 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 rs754479025 in MODY, yet.

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