Submissions for variant NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn)

gnomAD frequency: 0.00130  dbSNP: rs142272833

Total submissions: 8

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000500617	SCV000592977	uncertain significance	not specified	2015-11-24	criteria provided, single submitter	clinical testing
Center for Pediatric Genomic Medicine, Children's Mercy Hospital and Clinics	RCV000514132	SCV000610875	uncertain significance	not provided	2017-07-17	criteria provided, single submitter	clinical testing
Athena Diagnostics Inc	RCV000514132	SCV000840603	uncertain significance	not provided	2018-06-07	criteria provided, single submitter	clinical testing
Invitae	RCV000514132	SCV001015717	likely benign	not provided	2024-01-27	criteria provided, single submitter	clinical testing
Personalized Diabetes Medicine Program, University of Maryland School of Medicine	RCV001174390	SCV001337528	benign	Monogenic diabetes	2018-06-29	criteria provided, single submitter	research	ACMG criteria: [PP3 (4 predictors), BP4 (6 predictors), REVEL = 0.392, conflicting evidence so not using], BS2 (15 cases and 14 controls in type2diabetesgenetics.org, ABCC8 causes AD and AR d/o), BS3 (PMID: 18346985, functional assays showed no different from wild type) = Benign
GeneDx	RCV000514132	SCV001873775	uncertain significance	not provided	2021-04-26	criteria provided, single submitter	clinical testing	In silico analysis supports that this missense variant does not alter protein structure/function; Previously reported in two children with obesity (Foucan et al., 2018); This variant is associated with the following publications: (PMID: 29216354)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002244966	SCV002512178	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 (rs142272833) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002244967	SCV002512179	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 (rs142272833) in neonatal diabetes yet.