ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.941T>C (p.Leu314Pro)

dbSNP: rs1554334886
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500565 SCV000594958 pathogenic Maturity-onset diabetes of the young type 2 2016-02-01 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002376921 SCV002605122 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 rs1554334886 in MODY, yet.
Ambry Genetics RCV002376921 SCV002685023 uncertain significance Maturity onset diabetes mellitus in young 2019-03-22 criteria provided, single submitter clinical testing The p.L314P variant (also known as c.941T>C), located in coding exon 8 of the GCK gene, results from a T to C substitution at nucleotide position 941. The leucine at codon 314 is replaced by proline, an amino acid with similar properties. This variant was identified in one individual with a clinical diagnosis of maturity-onset diabetes of the young (Garin I et al. Clin. Endocrinol. (Oxf), 2008 Jun;68:873-8). This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Based on available evidence to date, the clinical significance of this alteration remains unclear.

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