Submissions for variant NM_000352.6(ABCC8):c.2277C>T (p.Thr759=)

gnomAD frequency: 0.02724  dbSNP: rs1801261

Total submissions: 11

Submitter	RCV	SCV	Clinical significance	Condition	Last evaluated	Review status	Method	Comment
Genetic Services Laboratory, University of Chicago	RCV000144984	SCV000192020	likely benign	not specified	2013-03-27	criteria provided, single submitter	clinical testing
PreventionGenetics, part of Exact Sciences	RCV000144984	SCV000303797	benign	not specified		criteria provided, single submitter	clinical testing
Illumina Laboratory Services, Illumina	RCV000333350	SCV000369329	likely benign	Hyperinsulinemic hypoglycemia, familial, 1	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000387837	SCV000369330	likely benign	Permanent neonatal diabetes mellitus	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Laboratory Services, Illumina	RCV000260391	SCV000369331	likely benign	Diabetes mellitus, transient neonatal, 2	2017-04-27	criteria provided, single submitter	clinical testing	This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). No publications were found based on this search. Allele frequency data from public databases allowed determination this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Athena Diagnostics	RCV000710377	SCV000840587	benign	not provided	2018-03-14	criteria provided, single submitter	clinical testing
Labcorp Genetics (formerly Invitae), Labcorp	RCV000710377	SCV001720267	benign	not provided	2024-02-01	criteria provided, single submitter	clinical testing
GeneDx	RCV000710377	SCV001950499	benign	not provided	2019-09-12	criteria provided, single submitter	clinical testing	This variant is associated with the following publications: (PMID: 24768178, 22902787, 9075812, 25955821, 24959012, 22704848, 18758683, 18599530, 15842514, 15111507, 11246895, 31118371, 11289470)
Ambry Genetics	RCV002444599	SCV002734064	likely benign	Inborn genetic diseases	2022-05-24	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.
Breakthrough Genomics, Breakthrough Genomics	RCV000710377	SCV005221373	likely benign	not provided		criteria provided, single submitter	not provided
Natera, Inc.	RCV001277197	SCV001464095	benign	Hereditary hyperinsulinism	2020-09-16	no assertion criteria provided	clinical testing