ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.107G>C (p.Arg36Pro)

dbSNP: rs193922261
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029836 SCV000052491 likely pathogenic Maturity-onset diabetes of the young type 2 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely pathogenic.
3billion RCV000029836 SCV002572597 likely pathogenic Maturity-onset diabetes of the young type 2 2022-09-01 criteria provided, single submitter clinical testing The variant is not observed in the gnomAD v2.1.1 dataset. Missense changes are a common disease-causing mechanism. In silico tool predictions suggest damaging effect of the variant on gene or gene product (REVEL: 0.97; 3Cnet: 0.99). Same nucleotide change resulting in same amino acid change has been previously reported to be associated with GCK-related disorder (ClinVar ID: VCV000036173). A different missense change at the same codon (p.Arg36Trp) has been reported as pathogenic/likely pathogenic with strong evidence (ClinVar ID: VCV000431973). Therefore, this variant is classified as Likely pathogenic according to the recommendation of ACMG/AMP guideline.

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