ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.1154G>A (p.Gly385Glu)

dbSNP: rs2096271537
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Institute of Human Genetics, University of Leipzig Medical Center RCV001262180 SCV001439960 likely pathogenic Type 2 diabetes mellitus 2019-01-01 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002463796 SCV002605085 likely risk allele 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 rs2096271537 in MODY, yet.
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV004699247 SCV005203240 uncertain significance not specified 2024-07-08 criteria provided, single submitter clinical testing Variant summary: GCK c.1154G>A (p.Gly385Glu) results in a non-conservative amino acid change located in the Hexokinase, C-terminal domain (IPR022673) of the encoded protein sequence. Five of five in-silico tools predict a damaging effect of the variant on protein function. The variant was absent in 233854 control chromosomes. The available data on variant occurrences in the general population are insufficient to allow any conclusion about variant significance. To our knowledge, no occurrence of c.1154G>A in individuals affected with Monogenic Diabetes and no experimental evidence demonstrating its impact on protein function have been reported. ClinVar contains an entry for this variant (Variation ID: 982610). Based on the evidence outlined above, the variant was classified as uncertain significance.

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