ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.278A>C (p.Glu93Ala)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
New York Genome Center RCV002468458 SCV002764327 uncertain significance Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2 2021-09-10 criteria provided, single submitter clinical testing The heterozygous c.278A>C (p.Glu93Ala) missense variant identified in the GCK gene has not been reported in the literature. This variant is absent in the gnomAD (v3) database suggesting it is not a common benign variant in the populations represented in that database. The variant affects a moderately conserved residue (Glu93) of the GCK gene and is predicted deleterious by multiple in silico tools (CADD score = 22.1, REVEL score = 0.711). Due to the lack of compelling evidence for its pathogenicity, the heterozygous c.278A>C (p.Glu93Ala) missense variant identified in the GCK gene is reported as aVariant of Uncertain Significance.

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