ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.550A>T (p.Thr184Ser)

dbSNP: rs368798811
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV001823502 SCV002072990 uncertain significance Severe myoclonic epilepsy in infancy criteria provided, single submitter clinical testing The missense variant p.T184S in SCN1A (NM_001165963.4) has not been reported previously as a pathogenic variant nor as a benign variant, to our knowledge. The p.T184S variant is novel (not in any individuals) in gnomAD Exomes and is novel (not in any individuals) in 1000 Genomes. The p.T184S missense variant is predicted to be damaging by both SIFT and PolyPhen2. The threonine residue at codon 184 of SCN1A is conserved in all mammalian species. The nucleotide c.550 in SCN1A is predicted conserved by GERP++ and PhyloP across 100 vertebrates. For these reasons, this variant has been classified as Uncertain Significance.
AiLife Diagnostics, AiLife Diagnostics RCV002223314 SCV002501719 uncertain significance not provided 2021-07-16 criteria provided, single submitter clinical testing

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