ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4714G>A (p.Val1572Ile)

gnomAD frequency: 0.05059  dbSNP: rs8192690
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Total submissions: 17
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
PreventionGenetics, part of Exact Sciences RCV000145003 SCV000303813 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000364373 SCV000369218 benign Permanent neonatal diabetes mellitus 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000389101 SCV000369219 benign Hyperinsulinism, Dominant/Recessive 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000293707 SCV000369220 benign Transient Neonatal Diabetes, Dominant 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094008 SCV000483252 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 RCV000348648 SCV000483253 likely benign Maturity onset diabetes mellitus in young 2016-06-14 criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV001094009 SCV000483254 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 RCV001521375 SCV001730710 benign not provided 2024-02-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533238 SCV001749039 benign Leucine-induced hypoglycemia 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094009 SCV001749040 benign Hyperinsulinemic hypoglycemia, familial, 1 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001094008 SCV001749041 benign Diabetes mellitus, transient neonatal, 2 2021-07-01 criteria provided, single submitter clinical testing
Pars Genome Lab RCV001533239 SCV001749042 benign Diabetes mellitus, permanent neonatal 3 2021-07-01 criteria provided, single submitter clinical testing
GeneDx RCV001521375 SCV001939727 benign not provided 2018-10-01 criteria provided, single submitter clinical testing
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV001521375 SCV002048321 benign not provided 2023-11-29 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002226683 SCV002505641 uncertain significance Neonatal hypoglycemia criteria provided, single submitter research Mutations in the ABCC8 gene are associated with both neonatal diabetes mellitus as well as MODY. Patients with this mutation have a better response to sulfonylureas. However, the significance of rs8192690 in neonatal Diabetes Mellitus is uncertain.
Genetic Services Laboratory, University of Chicago RCV000145003 SCV000192039 benign not specified no assertion criteria provided clinical testing
Natera, Inc. RCV001826797 SCV002085237 benign Hereditary hyperinsulinism 2019-11-22 no assertion criteria provided clinical testing

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