ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.605+1G>T (rs796053171)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189192 SCV000242824 pathogenic not provided 2017-01-25 criteria provided, single submitter clinical testing The c.605+1 G>T splice site variant in the SCN2A gene destroys the canonical splice donor site in intron 5. 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. Although splice site variants have not been previously reported in the SCN2A gene, other loss of function variants have been published in association with epilepsy.

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