ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.3620T>C (p.Leu1207Pro) (rs121917963)

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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000818870 SCV000959506 uncertain significance Early infantile epileptic encephalopathy 2018-10-29 criteria provided, single submitter clinical testing This sequence change replaces leucine with proline at codon 1207 of the SCN1A protein (p.Leu1207Pro). 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 in an individual affected with  severe myoclonic epilepsy of infancy (SMEI) (PMID: 18413471). ClinVar contains an entry for this variant (Variation ID: 68530). 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. In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance.
UniProtKB/Swiss-Prot RCV000059403 SCV000090927 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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