ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.232G>T (p.Asp78Tyr)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Genomics, Ann and Robert H. Lurie Children's Hospital of Chicago RCV003224686 SCV003920010 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2021-03-30 criteria provided, single submitter clinical testing GCK NM_000162.3 exon 3 p.Asp78Tyr (c.232G>T): This variant has not been reported in the literature and is not present in large control databases. Evolutionary conservation and computational predictive tools suggest that this variant may impact the protein. Of note, other variants at this same codon (p.Asp78Glu, p.Asp78His, p.Asp78Gly) have been reported in the literature, suggesting that this region has significance. In summary, data on this variant is insufficient for disease classification. Therefore, the clinical significance of this variant is uncertain.

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