Total submissions: 4
| Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
|---|---|---|---|---|---|---|---|---|
| Athena Diagnostics Inc | RCV000710385 | SCV000840595 | pathogenic | not provided | 2018-03-09 | criteria provided, single submitter | clinical testing | |
| Invitae | RCV000710385 | SCV003439708 | pathogenic | not provided | 2023-12-01 | criteria provided, single submitter | clinical testing | This sequence change replaces glycine, which is neutral and non-polar, with arginine, which is basic and polar, at codon 1378 of the ABCC8 protein (p.Gly1378Arg). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individuals with autosomal recessive familial hyperinsulinism (PMID: 16357843, 23275527). This variant is also known as p.Gly1379Arg. ClinVar contains an entry for this variant (Variation ID: 554195). 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 with a positive predictive value of 95%. This variant disrupts the p.Gly1378 amino acid residue in ABCC8. Other variant(s) that disrupt this residue have been determined to be pathogenic (PMID: 34304300). This suggests that this residue is clinically significant, and that variants that disrupt this residue are likely to be disease-causing. For these reasons, this variant has been classified as Pathogenic. |
| Baylor Genetics | RCV003465494 | SCV004198369 | likely pathogenic | Type 2 diabetes mellitus | 2023-06-16 | criteria provided, single submitter | clinical testing | |
| Counsyl | RCV000669782 | SCV000794568 | uncertain significance | Hyperinsulinemic hypoglycemia, familial, 1 | 2017-10-02 | flagged submission | clinical testing |