ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4988T>C (p.Leu1663Ser)

dbSNP: rs1553520425
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001196601 SCV001367209 likely pathogenic Migraine, familial hemiplegic, 3 2020-03-26 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PM1,PM2,PP2,PP3.
Labcorp Genetics (formerly Invitae), Labcorp RCV003588723 SCV004330572 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2023-10-07 criteria provided, single submitter clinical testing This sequence change replaces leucine, which is neutral and non-polar, with serine, which is neutral and polar, at codon 1663 of the SCN1A protein (p.Leu1663Ser). This variant is not present in population databases (gnomAD no frequency). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. ClinVar contains an entry for this variant (Variation ID: 930731). Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. 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.

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