ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.9C>T (p.Asp3=)

gnomAD frequency: 0.00009  dbSNP: rs142553382
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000992072 SCV000531717 likely benign not provided 2020-01-29 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 19790256)
Athena Diagnostics RCV000992072 SCV001144045 benign not provided 2018-10-25 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV001821204 SCV002070078 benign not specified 2021-06-25 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002379362 SCV002605189 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 rs142553382 in MODY, yet.
Ambry Genetics RCV002379362 SCV002691499 likely benign Maturity onset diabetes mellitus in young 2019-11-13 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.
Fulgent Genetics, Fulgent Genetics RCV002506065 SCV002808901 likely benign Type 2 diabetes mellitus; Hyperinsulinism due to glucokinase deficiency; Maturity-onset diabetes of the young type 2; Permanent neonatal diabetes mellitus 1 2022-04-21 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000992072 SCV003465551 benign not provided 2023-11-21 criteria provided, single submitter clinical testing

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