ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.137G>T (p.Arg46Met)

dbSNP: rs1064796993
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000479996 SCV000574295 uncertain significance not provided 2024-11-14 criteria provided, single submitter clinical testing Reported in association with MODY in published literature (PMID: 36257325); however, patient clinical information not provided; Not observed in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant does not alter protein structure/function; This variant is associated with the following publications: (PMID: 36257325, 36999085)
Geisinger Clinic, Geisinger Health System RCV002285338 SCV002562162 pathogenic Maturity-onset diabetes of the young type 2 2022-08-02 criteria provided, single submitter research PM2, PP3, PP2, PP4, PS4_Supporting

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