ClinVar Miner

Submissions for variant NM_000352.5(ABCC8):c.2992C>T (p.Arg998Ter) (rs769518471)

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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Athena Diagnostics Inc RCV000517672 SCV000612206 pathogenic not provided 2015-09-10 criteria provided, single submitter clinical testing
Genetic Services Laboratory, University of Chicago RCV000499389 SCV000592991 pathogenic Persistent hyperinsulinemic hypoglycemia of infancy 2015-11-25 criteria provided, single submitter clinical testing
Invitae RCV000517672 SCV000931645 pathogenic not provided 2018-07-23 criteria provided, single submitter clinical testing This sequence change creates a premature translational stop signal (p.Arg998*) in the ABCC8 gene. It is expected to result in an absent or disrupted protein product. This variant is present in population databases (rs769518471, ExAC 0.003%). This variant has been observed as homozygous or on the opposite chromosome (in trans) from a pathogenic variant in individuals affected with diffuse hyperinsulinism (PMID: 14692646, 17236890) as in heterozygosis in individuals with focal hyperinsulinism (PMID: 16357843, 20943781). This variant is also known as c.2995C>T, p.Arg999* in the literature. ClinVar contains an entry for this variant (Variation ID: 434053). Algorithms developed to predict the effect of sequence changes on RNA splicing suggest that this variant may create or strengthen a splice site, but this prediction has not been confirmed by published transcriptional studies. Loss-of-function variants in ABCC8 are known to be pathogenic (PMID: 20685672, 23345197). For these reasons, this variant has been classified as Pathogenic.
Personalized Diabetes Medicine Program,University of Maryland School of Medicine RCV000664138 SCV000787590 uncertain significance Monogenic diabetes 2017-03-03 criteria provided, single submitter research ACMG Criteria:PP3 (2 predictors), BP4 (2 predictors), PVS1 (stopgain)

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