ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1572G>A (p.Thr524=)

gnomAD frequency: 0.00948  dbSNP: rs61748766
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Total submissions: 13
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000029250 SCV000051896 likely benign Neonatal diabetes mellitus 2011-08-18 criteria provided, single submitter curation Converted during submission to Likely benign.
PreventionGenetics, part of Exact Sciences RCV000242823 SCV000303790 benign not specified criteria provided, single submitter clinical testing
Illumina Laboratory Services, Illumina RCV000295869 SCV000369377 benign Permanent neonatal diabetes mellitus 2018-01-12 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 RCV000334556 SCV000369378 benign Diabetes mellitus, transient neonatal, 2 2018-01-12 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 RCV000402755 SCV000369379 likely benign Hyperinsulinemic hypoglycemia, familial, 1 2018-01-12 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.
Athena Diagnostics RCV000710373 SCV000840583 benign not provided 2017-08-29 criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000710373 SCV001014576 benign not provided 2024-01-31 criteria provided, single submitter clinical testing
GeneDx RCV000710373 SCV001801125 likely benign not provided 2020-10-17 criteria provided, single submitter clinical testing
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002266904 SCV002522389 uncertain significance Transitory neonatal diabetes mellitus 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 (rs61748766) in neonatal diabetes yet.
Clinical Genomics, Uppaluri K&H Personalized Medicine Clinic RCV002266903 SCV002522390 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 (rs61748766) in MODY yet.
ARUP Laboratories, Molecular Genetics and Genomics, ARUP Laboratories RCV000710373 SCV004564918 benign not provided 2023-11-11 criteria provided, single submitter clinical testing
Breakthrough Genomics, Breakthrough Genomics RCV000710373 SCV005221379 likely benign not provided criteria provided, single submitter not provided
Natera, Inc. RCV001826508 SCV002075806 likely benign Hereditary hyperinsulinism 2019-12-02 no assertion criteria provided clinical testing

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