ClinVar Miner

Submissions for variant NM_006920.6(SCN1A):c.5314G>A (p.Ala1772Thr) (rs121917980)

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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059445 SCV000221768 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
GeneDx RCV000188999 SCV000242630 pathogenic not provided 2017-08-17 criteria provided, single submitter clinical testing p.Ala1783Thr (GCG>ACG): c.5347 G>A in exon 26 of the SCN1A gene (NM_001165963.1) The A1783T missense mutation in the SCN1A gene has been reported previously as a de novo mutation in association with Dravet syndrome and other SCN1A-related disorders (for examples, see Harkin et al., 2007; Sun et al., 2010; Heron et al., 2010). This mutation alters a highly conserved position predicted to be within the transmembrane segment S6 of the fourth homologous domain of the SCN1A protein, and another missense mutation at the same codon (A1783V) has also been published in association with SCN1A-related disorders in an external mutation database. The A1783T substitution is a non-conservative amino acid substitution, which is likely to impact secondary protein structure as these residues differ in polarity, charge, size and/or other properties. The variant is found in EPILEPSY,CHILD-EPI panel(s).
UniProtKB/Swiss-Prot RCV000059445 SCV000090970 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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