ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.440del (p.Gly147fs)

dbSNP: rs1554335585
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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 RCV000517744 SCV000613428 pathogenic not provided 2017-03-02 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002464019 SCV002605281 likely pathogenic 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 rs1554335585 in MODY, yet.

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