Total submissions: 5
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Counsyl | RCV000672200 | SCV000797281 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2018-01-19 | criteria provided, single submitter | clinical testing | |
Labcorp Genetics |
RCV001377217 | SCV001574491 | likely pathogenic | not provided | 2020-09-21 | criteria provided, single submitter | clinical testing | This variant is not present in population databases (ExAC no frequency). This sequence change replaces tryptophan with arginine at codon 1246 of the ABCC8 protein (p.Trp1246Arg). The tryptophan residue is highly conserved and there is a moderate physicochemical difference between tryptophan and arginine. This missense change has been observed in individual(s) with congenital hyperinsulinism (PMID: 30352420, 24401662). ClinVar contains an entry for this variant (Variation ID: 556225). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt ABCC8 protein function. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic. |
Clinical Genomics, |
RCV002245567 | SCV002515383 | 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 (rs1554906790) in MODY yet. | |
Clinical Genomics, |
RCV002245568 | SCV002515384 | 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 (rs1554906790) in neonatal diabetes yet. | |
Baylor Genetics | RCV003465512 | SCV004196355 | likely pathogenic | Type 2 diabetes mellitus | 2023-07-31 | criteria provided, single submitter | clinical testing |