Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Counsyl | RCV000169253 | SCV000220537 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2014-07-21 | criteria provided, single submitter | literature only | |
| Labcorp Genetics |
RCV001244754 | SCV001417997 | pathogenic | not provided | 2019-01-17 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Thr1042Glnfs*75) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individuals affected with ABCC8-related conditions (PMID: 26740944, 17668386). This variant is also known as c.3127_3129delACCinsCAGCCAGGACCTG in the literature. ClinVar contains an entry for this variant (Variation ID: 188894). Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). For these reasons, this variant has been classified as Pathogenic. |
| Juno Genomics, |
RCV000169253 | SCV005418589 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | criteria provided, single submitter | clinical testing | PM2_Supporting+PVS1+PS4_Moderate+PP4 | |
| Fulgent Genetics, |
RCV005049450 | SCV005676300 | likely pathogenic | Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 2024-05-31 | criteria provided, single submitter | clinical testing |