ClinVar Miner

Submissions for variant NM_001040142.2(SCN2A):c.4718T>C (p.Leu1573Pro) (rs796053152)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
GeneDx RCV000189166 SCV000242798 pathogenic not provided 2013-03-27 criteria provided, single submitter clinical testing p.Leu1573Pro (CTG>CCG): c.4718 T>C in exon 26 of the SCN2A gene (NM_021007.2). The Leu1573Pro missense change has not been published as a mutation, nor has it been reported as a benign polymorphism to our knowledge. It was not observed in approximately 6,500 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The amino acid substitution is semi-conservative in that both Leucine and Proline are uncharged, non-polar amino acid residues but the gain of a Proline may affect the secondary structure of the SCN2A protein. Leu1573Pro alters a conserved position in the S2 segment of the fourth transmembrane domain and another missense mutation in this region of the protein (Leu1563Val) has been reported in association with neonatal-infantile seizures (Heron et al., 2002; Misra et al., 2008). In addition, multiple in-silico algorithms predict Leu1573Pro may be damaging to the structure/function of the protein. This variant has been observed de novo without verified parentage. The variant is found in EPILEPSY panel(s).

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