Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Labcorp Genetics |
RCV001211946 | SCV001383514 | pathogenic | not provided | 2024-01-16 | criteria provided, single submitter | clinical testing | This sequence change falls in intron 8 of the ABCC8 gene. It does not directly change the encoded amino acid sequence of the ABCC8 protein. RNA analysis indicates that this variant induces altered splicing and may result in an absent or disrupted protein product. This variant is not present in population databases (gnomAD no frequency). This variant has been observed in individuals with autosomal recessive diffuse or focal hyperinsulinism (PMID: 23273570). ClinVar contains an entry for this variant (Variation ID: 39472). Studies have shown that this variant results in inclusion of 76 nucleotides from intron 8 and introduces a premature termination codon (PMID: 23273570). The resulting mRNA is expected to undergo nonsense-mediated decay. For these reasons, this variant has been classified as Pathogenic. |
Myriad Genetics, |
RCV000032668 | SCV002060016 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2021-11-08 | criteria provided, single submitter | clinical testing | NM_000352.3(ABCC8):c.1333-1013A>G is an intronic variant classified as likely pathogenic in the context of familial hyperinsulinism, ABCC8-related. c.1333-1013A>G has been observed in cases with relevant disease (PMID: 23273570, 32928245). Functional assessments of this variant are available in the literature (PMID: 23273570). c.1333-1013A>G has not been observed in population frequency databases. In summary, NM_000352.3(ABCC8):c.1333-1013A>G is an intronic variant that has functional support for pathogenicity and has been observed more frequently in cases with the relevant disease than in healthy populations. Please note: this variant was assessed in the context of healthy population screening. |
Baylor Genetics | RCV003466885 | SCV004197608 | pathogenic | Type 2 diabetes mellitus | 2024-03-10 | criteria provided, single submitter | clinical testing | |
Fulgent Genetics, |
RCV005042102 | SCV005676409 | likely pathogenic | Diabetes mellitus, transient neonatal, 2; Hyperinsulinemic hypoglycemia, familial, 1; Leucine-induced hypoglycemia; Type 2 diabetes mellitus; Diabetes mellitus, permanent neonatal 3 | 2024-06-19 | criteria provided, single submitter | clinical testing | |
OMIM | RCV000032668 | SCV000056431 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2013-01-10 | no assertion criteria provided | literature only |