Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411424 | SCV000485905 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2016-03-01 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001388603 | SCV001589660 | pathogenic | not provided | 2020-10-08 | criteria provided, single submitter | clinical testing | For these reasons, this variant has been classified as Pathogenic. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant has been observed in individual(s) with familial hyperinsulinism (PMID: 20685672). It is also known as c.3111G>A, p.Trp1037X in the literature. ClinVar contains an entry for this variant (Variation ID: 370556). This variant is not present in population databases (ExAC no frequency). This sequence change creates a premature translational stop signal (p.Trp1036*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. |
Clinical Genomics, |
RCV002251468 | SCV002520764 | uncertain significance | Maturity onset diabetes mellitus in young | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs1057516585) in MODY yet. | |
Clinical Genomics, |
RCV002251469 | SCV002520765 | uncertain significance | Transitory neonatal diabetes mellitus | criteria provided, single submitter | research | Mutations in ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may have a better response to sulfonylureas. However, no sufficient evidence is found to ascertain the role of this particular variant ( rs1057516585) in neonatal diabetes yet. |