Total submissions: 3
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Labcorp Genetics |
RCV001051901 | SCV001216083 | pathogenic | not provided | 2023-07-11 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (gnomAD no frequency). For these reasons, this variant has been classified as Pathogenic. Studies have shown this premature translational stop signal is associated with skipping of exon 17, but one or more of the resulting mRNA isoform(s) may be naturally occurring (PMID: 28663158). ClinVar contains an entry for this variant (Variation ID: 848198). This variant is also known as E747X. This premature translational stop signal has been observed in individual(s) with autosomal recessive permanent neonatal diabetes and/or clinical features of autosomal recessive early onset diabetes. This variant does not appear to be associated with the expected loss-of-function mechanism and may escape nonsense-mediated decay (PMID: 28663158, 34566892). In at least one individual the data is consistent with being in trans (on the opposite chromosome) from a pathogenic variant. This sequence change creates a premature translational stop signal (p.Glu746*) in the ABCC8 gene. RNA analysis indicates that this premature translational stop signal induces altered splicing and likely results in a shortened protein product. |
| Baylor Genetics | RCV003467766 | SCV004196015 | likely pathogenic | Type 2 diabetes mellitus | 2024-01-31 | criteria provided, single submitter | clinical testing | |
| Fulgent Genetics, |
RCV005049747 | SCV005676360 | pathogenic | Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 2024-06-03 | criteria provided, single submitter | clinical testing |