ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.2485C>T (p.Leu829=)

gnomAD frequency: 0.14682  dbSNP: rs1805036
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Total submissions: 15
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000144986 SCV000303799 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000304886 SCV000369323 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 RCV000364184 SCV000369324 benign Permanent neonatal diabetes mellitus 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 RCV000576603 SCV000369325 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 benign is not then subjected to further curation. The score for this variant resulted in a classification of benign for this disease.
Athena Diagnostics RCV000576603 SCV000677119 benign Hyperinsulinemic hypoglycemia, familial, 1 2017-04-12 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV001520135 SCV001729171 benign not provided 2025-02-04 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533280 SCV001749094 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000576603 SCV001749095 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV000304886 SCV001749096 benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533281 SCV001749097 benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001520135 SCV001847323 benign not provided 2018-08-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226680 SCV002505637 benign Neonatal hypoglycemia criteria provided, single submitter research rs1805036 variant of ABCC8 gene is associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation may respond to sulfonylureas.
Breakthrough Genomics, Breakthrough Genomics RCV001520135 SCV005323565 benign not provided criteria provided, single submitter not provided
Genetic Services Laboratory, University of Chicago RCV000144986 SCV000192022 likely benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001277196 SCV001464094 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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