Total submissions: 6
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000411306 | SCV000486108 | likely pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2016-03-30 | criteria provided, single submitter | clinical testing | |
Clinical Genomics, |
RCV002244849 | SCV002513509 | 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 (rs1057516718) in MODY yet. | |
Clinical Genomics, |
RCV002244850 | SCV002513510 | 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 (rs1057516718) in neonatal diabetes yet. | |
Baylor Genetics | RCV003470332 | SCV004196201 | pathogenic | Type 2 diabetes mellitus | 2023-08-23 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV003558361 | SCV004295379 | pathogenic | not provided | 2023-08-19 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Gln1341*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). This variant is not present in population databases (gnomAD no frequency). This premature translational stop signal has been observed in individual(s) with autosomal recessive diffuse or focal hyperinsulinism (PMID: 23345197, 24401662). This variant is also known as c.4024C>T (p.Gln1342X). ClinVar contains an entry for this variant (Variation ID: 370722). For these reasons, this variant has been classified as Pathogenic. |
Center for Genomic Medicine, |
RCV000411306 | SCV004806087 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2024-03-25 | criteria provided, single submitter | clinical testing |