ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1136C>G (p.Ala379Gly)

dbSNP: rs193922265
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Monogenic Diabetes Variant Curation Expert Panel RCV003318500 SCV004022329 uncertain significance Monogenic diabetes 2023-07-17 reviewed by expert panel curation The c.1136C>G variant in the glucokinase gene, GCK, causes an amino acid change of alanine to proline at codon 379 (p.(Ala379Gly)) of NM_000162.5. GCK is defined by the ClinGen MDEP VCEP as a gene that has a low rate of benign missense variation and where pathogenic missense variants are a common mechanism of disease (PP2). This variant is predicted to be deleterious by computational evidence, with a REVEL score of 0 0.922, which is greater than the MDEP VCEP threshold of 0.70 (PP3). This variant is absent from gnomAD v2.1.1 (PM2_Supporting). Another missense variant, c.1136C>A p.Ala379Glu, has been classified as likely pathogenic by the ClinGen MDEP VCEP (PM5_Supporting). This variant was identified in an individual undergoing clinical testing, however, there was insufficient clinical information to evaluate for PP4 (ClinVar ID: 447382). In summary, this variant meets the criteria to be classified as uncertain significance for monogenic diabetes. ACMG/AMP criteria applied, as specified by the ClinGen MDEP VCEP (specification version 1.2.0, approved 6/7/2023): PP2, PP3, PM2_Supporting, PM5_supporting.
Athena Diagnostics Inc RCV000518241 SCV000613400 uncertain significance not provided 2020-08-19 criteria provided, single submitter clinical testing

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