ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.1063G>A (p.Ala355Thr) (rs145136257)

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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 RCV000194352 SCV000246286 likely benign not specified 2017-08-02 criteria provided, single submitter clinical testing
Illumina Clinical Services Laboratory,Illumina RCV000333629 SCV000369392 likely benign Transient neonatal diabetes mellitus 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.
Illumina Clinical Services Laboratory,Illumina RCV000662059 SCV000369393 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Illumina Clinical Services Laboratory,Illumina RCV000279694 SCV000369394 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). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to determine this variant is unlikely to cause disease. Therefore, this variant is classified as likely benign.
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662058 SCV000784394 uncertain significance Type 2 diabetes mellitus 2018-03-05 criteria provided, single submitter clinical testing
Genomic Research Center,Shahid Beheshti University of Medical Sciences RCV000662059 SCV000784395 uncertain significance Hyperinsulinemic hypoglycemia, familial, 1 2018-03-05 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000710368 SCV000840578 uncertain significance not provided 2017-08-30 criteria provided, single submitter clinical testing
GeneDx RCV000710368 SCV001830592 uncertain significance not provided 2019-11-25 criteria provided, single submitter clinical testing In silico analysis, which includes protein predictors and evolutionary conservation, supports that this variant does not alter protein structure/function; Identified in the heterozygous state in a patient with permanent neonatal diabetes and a patient with congenital hyperinsulinism (Russo et al., 2011; Kapoor et el., 2013), and observed in the heterozygous state with a second variant in cis in a patient with congenital hyperinsulinism (Ismail et al., 2011); however, also observed in the heterozyous state in many unaffected, unrelated individuals referred for genetic testing at GeneDx; This variant is associated with the following publications: (PMID: 31604004, 20943779, 23345197, 21544516)
Diagnostic Laboratory, Department of Genetics, University Medical Center Groningen RCV000710368 SCV001744122 uncertain significance not provided no assertion criteria provided clinical testing
Human Genetics - Radboudumc,Radboudumc RCV000710368 SCV001956464 uncertain significance not provided no assertion criteria provided clinical testing

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