ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.590T>C (p.Met197Thr)

dbSNP: rs1554335418
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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 RCV004732481 SCV000613443 likely pathogenic not provided 2019-06-21 criteria provided, single submitter clinical testing This variant has not been reported in large, multi-ethnic general populations (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Assessment of experimental evidence suggests this variant results in abnormal protein function.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463702 SCV002605200 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 rs1554335418 in MODY, yet.

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