Total submissions: 3
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics | RCV000992054 | SCV001144022 | uncertain significance | not provided | 2019-06-18 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002346196 | SCV002605217 | 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 rs1583599749 in MODY, yet. | |
Ambry Genetics | RCV002346196 | SCV002654032 | uncertain significance | Maturity onset diabetes mellitus in young | 2018-08-06 | criteria provided, single submitter | clinical testing | The p.L185R variant (also known as c.554T>G), located in coding exon 5 of the GCK gene, results from a T to G substitution at nucleotide position 554. The leucine at codon 185 is replaced by arginine, an amino acid with dissimilar properties. This amino acid position is highly conserved in available vertebrate species. In addition, this alteration is predicted to be deleterious by in silico analysis. Since supporting evidence is limited at this time, the clinical significance of this alteration remains unclear. |