ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4976T>C (p.Leu1659Pro) (rs1559105368)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000695436 SCV000823934 pathogenic Early infantile epileptic encephalopathy 2018-11-12 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1659 of the SCN1A protein (p.Leu1659Pro). The leucine residue is highly conserved and there is a moderate physicochemical difference between leucine and proline. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo in an individual with clinical features of SCN1A-related epilepsy (Invitae). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. For these reasons, this variant has been classified as Pathogenic.

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