Total submissions: 5
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics | RCV000992052 | SCV001144018 | pathogenic | not provided | 2018-12-17 | criteria provided, single submitter | clinical testing | The variant disrupts a canonical splice site. Found in at least one symptomatic patient, and not found in general population data. |
| Clinical Genomics, |
RCV003106086 | SCV002758760 | likely pathogenic | 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 rs1583601110 in MODY, yet. | |
| Gene |
RCV000992052 | SCV005202003 | pathogenic | not provided | 2023-11-01 | criteria provided, single submitter | clinical testing | Canonical splice site variant predicted to result in an in-frame loss of the adjacent exon in a gene for which loss of function is a known mechanism of disease; Not observed at significant frequency in large population cohorts (gnomAD); This variant is associated with the following publications: (PMID: 8376578) |
| Labcorp Genetics |
RCV000992052 | SCV005835122 | pathogenic | not provided | 2024-09-28 | criteria provided, single submitter | clinical testing | This sequence change affects a splice site in intron 4 of the GCK gene. It is expected to disrupt RNA splicing. Variants that disrupt the donor or acceptor splice site typically lead to a loss of protein function (PMID: 16199547), and loss-of-function variants in GCK are known to be pathogenic (PMID: 7553875, 9867845, 14578306, 24323243, 25015100). This variant is not present in population databases (gnomAD no frequency). Disruption of this splice site has been observed in individual(s) with GCK-related conditions and/or maturity onset diabetes of the young (PMID: 8376578, 24430320). It has also been observed to segregate with disease in related individuals. This variant is also known as deletion of 15 bp, which removed the t of the gt dinucleotides in the splice donor site of intron 4 and the following 14 bp. ClinVar contains an entry for this variant (Variation ID: 804847). Studies have shown that disruption of this splice site is associated with inconclusive levels of altered splicing (PMID: 8376578). For these reasons, this variant has been classified as Pathogenic. |
| OMIM | RCV002286425 | SCV000037789 | pathogenic | Maturity-onset diabetes of the young type 2 | 1993-09-01 | no assertion criteria provided | literature only |