ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1421A>G (p.Gln474Arg)

dbSNP: rs1591834223
Minimum review status: Collection method:
Minimum conflict level:
ClinVar version:
Total submissions: 4
Download table as spreadsheet
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, Uppaluri K&H Personalized Medicine Clinic 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, Uppaluri K&H Personalized Medicine Clinic 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, part of Exact Sciences 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.

The information on this website is not intended for direct diagnostic use or medical decision-making without review by a genetics professional. Individuals should not change their health behavior solely on the basis of information contained on this website. Neither the University of Utah nor the National Institutes of Health independently verfies the submitted information. If you have questions about the information contained on this website, please see a health care professional.