ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.415A>T (p.Met139Leu)

gnomAD frequency: 0.00001  dbSNP: rs368137186
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Baylor Genetics RCV001329663 SCV001521165 uncertain significance Type 2 diabetes mellitus 2019-03-28 criteria provided, single submitter clinical testing This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464449 SCV002605287 uncertain significance 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 rs368137186 in MODY, yet.
Fulgent Genetics, Fulgent Genetics RCV002476541 SCV002779297 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2022-04-20 criteria provided, single submitter clinical testing

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