Total submissions: 4
Submitter | RCV | SCV | Clinical significance | Condition | Last evaluated | Review status | Method | Comment |
---|---|---|---|---|---|---|---|---|
Athena Diagnostics Inc | RCV000991469 | SCV001142883 | pathogenic | not provided | 2018-12-18 | criteria provided, single submitter | clinical testing | Not found in the total gnomAD dataset, and the data is high quality (0/278276 chr). Found in at least one symptomatic patient. Predicted to have a damaging effect on the protein. Damaging to protein function(s) relevant to disease mechanism. 3 de novo cases without parental identity confirmed. |
Clinical Genomics, |
RCV002252290 | SCV002522417 | 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 ( rs1591834223) in neonatal diabetes yet. | |
Clinical Genomics, |
RCV002253762 | SCV002522418 | 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 ( rs1591834223) in mody yet. | |
Preventiongenetics, |
RCV003396572 | SCV004111585 | likely pathogenic | ABCC8-related condition | 2023-04-13 | criteria provided, single submitter | clinical testing | The ABCC8 c.1421A>G variant is predicted to result in the amino acid substitution p.Gln474Arg. This variant has been reported to in several individuals with congenital hyperinsulinism (Christesen et al 2007. PubMed ID: 17114887; Macmullen CM et al 2011. PubMed ID: 21536946; Supplementary Appendix, Snider et al. 2012. PubMed ID: 23275527; Supplementary table 1, Xu ZD et al 2021. PubMed ID: 33502730). In at least three of these individuals, this variant were reported to have arise de novo (Christesen et al 2007. PubMed ID: 17114887; Macmullen CM et al 2011. PubMed ID: 21536946; Supplementary table 1, Xu ZD et al 2021. PubMed ID: 33502730). This variant has not been reported in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. This variant is interpreted as likely pathogenic. |