ClinVar Miner

Submissions for variant NM_000162.5(GCK):c.134T>C (p.Leu45Pro)

dbSNP: rs1131691598
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000493595 SCV000582452 likely pathogenic not provided 2021-10-01 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (Lek et al., 2016); Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function
Labcorp Genetics (formerly Invitae), Labcorp RCV000493595 SCV002272341 uncertain significance not provided 2021-07-08 criteria provided, single submitter clinical testing Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 429796). This variant has not been reported in the literature in individuals affected with GCK-related conditions. This variant is not present in population databases (ExAC no frequency). This sequence change replaces leucine with proline at codon 45 of the GCK protein (p.Leu45Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002465692 SCV002605384 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 rs1131691598 in MODY, yet.
CeGaT Center for Human Genetics Tuebingen RCV000493595 SCV004810533 uncertain significance not provided 2024-03-01 criteria provided, single submitter clinical testing GCK: PM2, PP2, PS4:Supporting

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