ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.680T>C (p.Ile227Thr)

dbSNP: rs121917937
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001195991 SCV001366418 likely pathogenic Migraine, familial hemiplegic, 3 2016-01-01 criteria provided, single submitter clinical testing This variant was classified as: Likely pathogenic. The following ACMG criteria were applied in classifying this variant: PS1,PM2,PM5,PP2,PP3.
GeneDx RCV002280166 SCV002568674 pathogenic not provided 2022-02-27 criteria provided, single submitter clinical testing Not observed at significant frequency in large population cohorts (gnomAD); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This variant is associated with the following publications: (PMID: 32090326, 21248271, 27246997)

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