ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.343A>G (p.Met115Val)

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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 RCV003482701 SCV004229660 uncertain significance not provided 2023-04-27 criteria provided, single submitter clinical testing Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity (http://gnomad.broadinstitute.org). This variant has been identified in at least one individual with clinical features associated with this gene. Computational tools predict that this variant is damaging.
Fulgent Genetics, Fulgent Genetics RCV005036833 SCV005668356 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2024-01-14 criteria provided, single submitter clinical testing

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