ClinVar Miner

Submissions for variant NM_001287174.2(ABCC8):c.4311-2A>G (rs886041391)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000334836 SCV000329971 pathogenic not provided 2017-07-13 criteria provided, single submitter clinical testing The c.4308-2A>G pathogenic variant in the ABCC8 gene has been reported previously (as c.4311-2A>G due to the use of alternative nomenclature) in association with congenital hyperinsulinism in one individual who also harbored a nonsense variant in trans (Kapoor et al., 2013). This splice site variant destroys the canonical splice acceptor site in intron 35. It is predicted to cause abnormal gene splicing, either leading to an abnormal message that is subject to nonsense-mediated mRNA decay, or to an abnormal protein product if the message is used for protein translation. The c.4308-2A>G variant was not observed in approximately 6500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. We interpret c.4308-2A>G as a pathogenic variant.
Counsyl RCV000984137 SCV001132108 likely pathogenic Hyperinsulinemic hypoglycemia, familial, 1 2015-06-22 no assertion criteria provided clinical testing

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