ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.4211T>C (p.Phe1404Ser)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001061500 SCV001226244 likely pathogenic Early infantile epileptic encephalopathy 2020-01-03 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with serine at codon 1415 of the SCN1A protein (p.Phe1415Ser). The phenylalanine residue is highly conserved and there is a large physicochemical difference between phenylalanine and serine. This variant is not present in population databases (ExAC no frequency). This variant has been observed in individual(s) with SCN1A related epileptic encephalopathy (Invitae). In at least one individual the variant was observed to be de novo. 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 currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.

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