Submissions for variant NM_000162.5(GCK):c.138G>A (p.Arg46=)

gnomAD frequency: 0.00003  dbSNP: rs550111033

Total submissions: 4

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp	RCV001553677	SCV001774627	benign	not specified	2021-07-09	criteria provided, single submitter	clinical testing
Ambry Genetics	RCV002388589	SCV002700016	likely benign	Maturity onset diabetes mellitus in young	2017-09-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Labcorp Genetics (formerly Invitae), Labcorp	RCV003727999	SCV004535194	likely benign	not provided	2023-04-12	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV003966184	SCV004778441	likely benign	GCK-related disorder	2022-05-16	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).