Submissions for variant NM_000352.6(ABCC8):c.1486C>T (p.Leu496=)

gnomAD frequency: 0.00008  dbSNP: rs150956385

Total submissions: 5

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000504507	SCV000592965	likely benign	not specified	2017-01-20	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000977798	SCV001125719	likely benign	not provided	2024-01-24	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002266970	SCV002522399	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 (rs150956385) in MODY yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV002266971	SCV002522400	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 (rs150956385) in neonatal diabetes yet.
PreventionGenetics, part of Exact Sciences	RCV004541548	SCV004775507	likely benign	ABCC8-related disorder	2020-02-26	no assertion criteria provided	clinical testing	This variant is classified as likely benign based on ACMG/AMP sequence variant interpretation guidelines (Richards et al. 2015 PMID: 25741868, with internal and published modifications).