Total submissions: 7
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Women's Health and Genetics/Laboratory Corporation of America, |
RCV000780807 | SCV000918369 | pathogenic | Familial hyperinsulinism | 2018-10-11 | criteria provided, single submitter | clinical testing | Variant summary: ABCC8 c.695G>A (p.Trp232X) results in a premature termination codon, predicted to cause a truncation of the encoded protein or absence of the protein due to nonsense mediated decay, which are commonly known mechanisms for disease. The variant was absent in 277230 control chromosomes. c.695G>A has been reported in the literature in individuals affected with Congenital Hyperinsulinism (Petraitien_2014, Snider_2013). These data indicate that the variant may be associated with disease. To our knowledge, no experimental evidence demonstrating an impact on protein function has been reported. No clinical diagnostic laboratories have submitted clinical-significance assessments for this variant to ClinVar after 2014. Based on the evidence outlined above, the variant was classified as pathogenic. |
Mendelics | RCV000988492 | SCV001138236 | pathogenic | Hyperinsulinemic hypoglycemia, familial, 1 | 2019-05-28 | criteria provided, single submitter | clinical testing | |
Genetic Services Laboratory, |
RCV001816835 | SCV002069629 | pathogenic | not provided | 2020-09-03 | criteria provided, single submitter | clinical testing | |
Invitae | RCV001816835 | SCV002244780 | pathogenic | not provided | 2023-06-13 | criteria provided, single submitter | clinical testing | This sequence change creates a premature translational stop signal (p.Trp232*) 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). For these reasons, this variant has been classified as Pathogenic. ClinVar contains an entry for this variant (Variation ID: 633027). This premature translational stop signal has been observed in individual(s) with autosomal recessive ABCC8-related conditions (PMID: 23275527). This variant is not present in population databases (gnomAD no frequency). |
Clinical Genomics, |
RCV002253608 | SCV002522653 | 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 (rs1564977373) in MODY yet. | |
Clinical Genomics, |
RCV002254317 | SCV002522655 | 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 (rs1564977373) in neonatal diabetes yet. | |
Baylor Genetics | RCV003467312 | SCV004199587 | pathogenic | Type 2 diabetes mellitus | 2023-07-02 | criteria provided, single submitter | clinical testing |