ClinVar Miner

Submissions for variant NM_001365536.1(SCN9A):c.966-2A>G (rs1553492481)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000523928 SCV000617482 pathogenic not provided 2016-08-08 criteria provided, single submitter clinical testing The c.966-2 A>G splice site variant in the SCN9A gene has been previously reported as a de novo pathogenic variant in a patient with congenital insensitivity to pain who also had a nonsense variant in the SCN9A gene (Klein et al., 2013). It was not observed in approximately 6,100 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. This pathogenic variant destroys the natural splice acceptor site in intron 8, and is expected to cause abnormal gene splicing.

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