ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.758T>G (p.Val253Gly)

dbSNP: rs193921400
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029916 SCV000052571 likely pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463609 SCV002605105 likely 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 rs193921400 in MODY, yet.
Athena Diagnostics RCV002472938 SCV002771538 uncertain significance not provided 2021-12-02 criteria provided, single submitter clinical testing

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