ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.773T>C (p.Leu258Pro)

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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Neuberg Centre For Genomic Medicine, NCGM RCV004727211 SCV005329629 uncertain significance Developmental and epileptic encephalopathy 6B 2023-05-20 criteria provided, single submitter clinical testing The missense variant c.773T>C(p.Leu258Pro) in SCN1A gene has been reported in individual affected with SCN1A related disorder (Wahab et. al., 2017). The observed variant is absent in gnomAD exomes database. This variant has not been submitted to the ClinVar database. Multiple lines of computational evidence (Polyphen - probably damaging , SIFT - damaging and MutationTaster - disease causing) predict a damaging effect on protein structure and function for this variant. The amino acid change p.Leu258Pro in SCN1A is predicted as conserved by GERP++ and PhyloP across 100 vertebrates. The amino acid Leu at position 258 is changed to a Pro changing protein sequence and it might alter its composition and physico-chemical properties. For these reasons, this variant has been classified as Uncertain Significance (VUS).

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