ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.126del (p.Asp43fs) (rs1553560831)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Women's Health and Genetics/Laboratory Corporation of America, LabCorp RCV000588446 SCV000697760 pathogenic Severe myoclonic epilepsy in infancy 2017-01-25 criteria provided, single submitter clinical testing Variant summary: The SCN1A c.126delA (p.Asp43Metfs) variant results in a premature termination codon, predicted to cause a truncated or absent SCN1A protein due to nonsense mediated decay, which are commonly known mechanisms for disease ACMG, PVS1). Truncations downstream of this position have been classified as pathogenic by our laboratory (e.g.c.664C>T/p.Arg222X; c.1561C>T/p.Gln521X). This variant has been reported in multiple SMEI patients. Another SCN1A variant, c.127delG (gives the same codon change as our variant of interest) was reported in a pt (De novo, age of onset at 6months) with classical Dravel syndrome (ACMG, PS1). One in silico tool predicts a damaging outcome for this variant. This variant is absent in 121410 control chromosomes (ACMG, PM2). Taken together, this variant is classified as Pathogenic.

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