ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4396T>C (p.Phe1466Leu)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
LifeCell International Pvt. Ltd RCV001527711 SCV001738770 uncertain significance Severe myoclonic epilepsy in infancy criteria provided, single submitter clinical testing "A heterozygous missense variant (c.4396T>C) in exon 26 of the SCN1A gene that results in the amino acid substitution from Phenylalanine to Leucine at codon 1466 (p.Phe1466Leu) was identified. The observed variant is not present in both the 1000 Genomes and gnomAD databases. The reference base is conserved across the species and in-silico predictions by Polyphen and SIFT are damaging. The Missense Variants Z-Score for this variant is 5.61. Missense Variants Z-Score is produced by the Exome Aggregation Consortium (60,706 adult humans) by computing a signed Z score for the deviation of observed counts from the expected number. Positive Z scores indicate increased constraint (intolerance to variation) and therefore that the gene had fewer missense variants than expected. (DOI: 10.1038/nature19057). Based on the above evidence this variant has been classified as variant of uncertain signficance according to the ACMG guidelines."

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