ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.641A>G (p.Tyr214Cys)

dbSNP: rs104894015
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV005089266 SCV005835119 pathogenic not provided 2024-12-31 criteria provided, single submitter clinical testing This sequence change replaces tyrosine, which is neutral and polar, with cysteine, which is neutral and slightly polar, at codon 214 of the GCK protein (p.Tyr214Cys). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with hyperinsulinemic hypoglycemia (PMID: 15277402). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 16144). Invitae Evidence Modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) indicates that this missense variant is not expected to disrupt GCK protein function with a negative predictive value of 80%. Experimental studies have shown that this missense change affects GCK function (PMID: 15277402). For these reasons, this variant has been classified as Pathogenic.
OMIM RCV000017526 SCV000037798 pathogenic Hyperinsulinism due to glucokinase deficiency 2004-08-01 no assertion criteria provided literature only

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