ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5293T>C (p.Phe1765Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV001237218 SCV001409970 likely pathogenic Early infantile epileptic encephalopathy 2019-07-24 criteria provided, single submitter clinical testing This sequence change replaces phenylalanine with leucine at codon 1765 of the SCN1A protein (p.Phe1765Leu). The phenylalanine residue is highly conserved and there is a small physicochemical difference between phenylalanine and leucine. 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 conditions (PMID: 20550552). This variant has been reported to affect SCN1A protein function (PMID: 20550552). This variant disrupts the p.Phe1765 amino acid residue in SCN1A. Other variant(s) that disrupt this residue have been observed in individuals with SCN1A-related conditions (PMID: 30619928), which suggests that this may be a clinically significant amino acid residue. 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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