ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4308+1G>A (rs886039648)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000255318 SCV000322579 pathogenic not provided 2016-06-02 criteria provided, single submitter clinical testing The c.4308+1G>A variant in the SCN2A gene has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. This splice site variant destroys the canonical splice donor site in intron 23. The resulting lost residues are predicted to be within the pore forming loop between the S5 and S6 transmembrane segments of the third homologous domain. The c.4308+1G>A 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+1G>A as a pathogenic variant.

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