ClinVar Miner

Submissions for variant NM_020732.3(ARID1B):c.2372-2A>C (rs1057524160)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000426914 SCV000534712 uncertain significance not provided 2016-12-12 criteria provided, single submitter clinical testing A variant of uncertain significance has been identified in the ARID1B gene. The c.2372-2A>C variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. It is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). The c.2372-2A>C splice site variant destroys the canonical splice acceptor site in intron 7. 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. Based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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