Submissions for variant NM_000162.5(GCK):c.1068G>T (p.Gly356=)

gnomAD frequency: 0.00004  dbSNP: rs369103069

Total submissions: 3

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Labcorp Genetics (formerly Invitae), Labcorp	RCV000924600	SCV001070117	likely benign	not provided	2018-04-12	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002463752	SCV002605102	likely 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 rs369103069 in MODY, yet.
Athena Diagnostics	RCV000924600	SCV005622074	uncertain significance	not provided	2024-05-03	criteria provided, single submitter	clinical testing	Available data are insufficient to determine the clinical significance of the variant at this time. The frequency of this variant in the general population is uninformative in assessment of its pathogenicity. (http://gnomad.broadinstitute.org) Assessment of experimental evidence suggests this variant results in abnormal protein function. (PMID: 37101203) Computational tools yielded predictions that this variant is unlikely to have an effect on normal RNA splicing.