ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4772A>T (p.Lys1591Ile)

dbSNP: rs1689685377
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Total submissions: 1
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Centre for Mendelian Genomics, University Medical Centre Ljubljana RCV001198758 SCV001369753 pathogenic Migraine, familial hemiplegic, 3 2020-01-14 criteria provided, single submitter clinical testing This variant was classified as: Pathogenic. The following ACMG criteria were applied in classifying this variant: PS2,PM1,PM2,PP2,PP3.

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