ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.423G>A (p.Val141=)

gnomAD frequency: 0.01009  dbSNP: rs116132921
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Total submissions: 10
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory,University of Chicago RCV000145000 SCV000192036 likely benign not specified 2013-10-29 criteria provided, single submitter clinical testing
PreventionGenetics,PreventionGenetics RCV000145000 SCV000303810 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services,Illumina RCV000370073 SCV000369407 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 RCV000277787 SCV000369408 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.
Illumina Laboratory Services,Illumina RCV000297828 SCV000369409 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.
Athena Diagnostics Inc RCV000710387 SCV000840597 benign not provided 2017-09-08 criteria provided, single submitter clinical testing
Invitae RCV000710387 SCV001012343 benign not provided 2021-12-18 criteria provided, single submitter clinical testing
GeneDx RCV000710387 SCV001896910 benign not provided 2020-03-03 criteria provided, single submitter clinical testing This variant is associated with the following publications: (PMID: 16429405)
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002254155 SCV002524076 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 ( rs116132921) in MODY yet.
Natera, Inc. RCV001272246 SCV001454048 benign Hereditary hyperinsulinism 2020-09-16 no assertion criteria provided clinical testing

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