ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2963T>G (p.Leu988Arg)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Human Genetics Unit,University of Colombo RCV001256670 SCV001424576 likely pathogenic Severe myoclonic epilepsy in infancy 2019-05-10 criteria provided, single submitter clinical testing The Leu988Arg variant in SCN1A gene has been reported in a Sri Lankan patient diagnosed with Seizures (PMID: 31102827). This mutation is not found in global population frequency databases or in our internal exome database. This variant is located in an area of the SCN1A gene that is highly conserved in different species of animals during evolution and it causes a non-conservative substitution of amino acids. According to ACMG criteria (2015), this variant can be classified as likely pathogenic.

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