ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.834C>T (p.Asp278=)

gnomAD frequency: 0.00004  dbSNP: rs200071687
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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV000948767 SCV001094989 benign not provided 2024-12-31 criteria provided, single submitter clinical testing
Athena Diagnostics RCV000948767 SCV001144037 benign not provided 2018-12-10 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463754 SCV002605044 benign Maturity onset diabetes mellitus in young criteria provided, single submitter research Potent mutations in GCK gene is associated with poor secretion of insulin. Its associated with milder forms of diabetes, which can be controlled by diet . However, there is no sufficient evidence to ascertain the significance of rs200071687 in MODY, yet.
Fulgent Genetics, Fulgent Genetics RCV002489298 SCV002802894 likely benign Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2021-12-15 criteria provided, single submitter clinical testing
Ambry Genetics RCV002463754 SCV005589874 likely benign Maturity onset diabetes mellitus in young 2024-09-11 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.
PreventionGenetics, part of Exact Sciences RCV003960598 SCV004775817 likely benign GCK-related disorder 2020-02-20 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).

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