Submissions for variant NM_000352.6(ABCC8):c.4728C>T (p.Phe1576=)

gnomAD frequency: 0.01181  dbSNP: rs73419228

Total submissions: 15

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000145004	SCV000192040	likely benign	not specified	2013-03-05	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000145004	SCV000303814	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000346983	SCV000369215	likely benign	Permanent neonatal diabetes mellitus	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000374176	SCV000369216	likely benign	Hyperinsulinism, Dominant/Recessive	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000307362	SCV000369217	likely benign	Transient Neonatal Diabetes, Dominant	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000259716	SCV000483249	likely benign	Maturity onset diabetes mellitus in young	2016-06-14	criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV001094007	SCV000483250	benign	Diabetes mellitus, transient neonatal, 2	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Illumina Laboratory Services, Illumina	RCV001094006	SCV000483251	likely benign	Hyperinsulinemic hypoglycemia, familial, 1	2018-01-13	criteria provided, single submitter	clinical testing	This variant was observed in the ICSL laboratory as part of a predisposition screen in an ostensibly healthy population. It had not been previously curated by ICSL or reported in the Human Gene Mutation Database (HGMD: prior to June 1st, 2018), and was therefore a candidate for classification through an automated scoring system. Utilizing variant allele frequency, disease prevalence and penetrance estimates, and inheritance mode, an automated score was calculated to assess if this variant is too frequent to cause the disease. Based on the score and internal cut-off values, a variant classified as likely benign is not then subjected to further curation. The score for this variant resulted in a classification of likely benign for this disease.
Labcorp Genetics (formerly Invitae), Labcorp	RCV000872367	SCV001014167	benign	not provided	2024-01-31	criteria provided, single submitter	clinical testing
GeneDx	RCV000872367	SCV001839902	benign	not provided	2020-06-15	criteria provided, single submitter	clinical testing
Athena Diagnostics	RCV000145004	SCV001879522	benign	not specified	2021-02-08	criteria provided, single submitter	clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic	RCV000259716	SCV002505454	uncertain significance	Maturity onset diabetes mellitus in young		criteria provided, single submitter	research	Mutations in KCNJ11 gene can cause decreased production and secretion of insulin. This can lead to MODY which may be responsive to oral sulfonylureas. These are also associated with Neonatal Diabetes. However, no sufficient evidence is found to ascertain the role of rs73419228 variant in MODY yet.
Ambry Genetics	RCV002336288	SCV002639090	likely benign	Inborn genetic diseases	2022-07-06	criteria provided, single submitter	clinical testing	This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories	RCV000872367	SCV004563981	benign	not provided	2023-11-29	criteria provided, single submitter	clinical testing
Natera, Inc.	RCV001277175	SCV001464073	benign	Hereditary hyperinsulinism	2020-09-16	no assertion criteria provided	clinical testing