ClinVar Miner

Submissions for variant NM_000352.6(ABCC8):c.4563G>T (p.Lys1521Asn) (rs142272833)

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Total submissions: 6
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Genetic Services Laboratory, University of Chicago RCV000500617 SCV000592977 uncertain significance not specified 2015-11-24 criteria provided, single submitter clinical testing
Center for Pediatric Genomic Medicine,Children's Mercy Hospital and Clinics RCV000514132 SCV000610875 uncertain significance not provided 2017-07-17 criteria provided, single submitter clinical testing
Athena Diagnostics Inc RCV000514132 SCV000840603 uncertain significance not provided 2018-06-07 criteria provided, single submitter clinical testing
Invitae RCV000514132 SCV001015717 likely benign not provided 2020-12-06 criteria provided, single submitter clinical testing
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV001174390 SCV001337528 benign Monogenic diabetes 2018-06-29 criteria provided, single submitter research ACMG criteria: [PP3 (4 predictors), BP4 (6 predictors), REVEL = 0.392, conflicting evidence so not using], BS2 (15 cases and 14 controls in, ABCC8 causes AD and AR d/o), BS3 (PMID: 18346985, functional assays showed no different from wild type) = Benign
GeneDx RCV000514132 SCV001873775 uncertain significance not provided 2021-04-26 criteria provided, single submitter clinical testing In silico analysis supports that this missense variant does not alter protein structure/function; Previously reported in two children with obesity (Foucan et al., 2018); This variant is associated with the following publications: (PMID: 29216354)

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