ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5468T>C (p.Met1823Thr)

dbSNP: rs1559101839
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Invitae RCV000693631 SCV000821506 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2021-11-08 criteria provided, single submitter clinical testing This sequence change replaces methionine, which is neutral and non-polar, with threonine, which is neutral and polar, at codon 1823 of the SCN1A protein (p.Met1823Thr). This variant is not present in population databases (gnomAD no frequency). This missense change has been observed in individual(s) with SCN1A-related conditions (PMID: 24679980, 31031587). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 572287). Algorithms developed to predict the effect of missense changes on protein structure and function are either unavailable or do not agree on the potential impact of this missense change (SIFT: "Deleterious"; PolyPhen-2: "Benign"; Align-GVGD: "Class C65"). For these reasons, this variant has been classified as Pathogenic.
CeGaT Center for Human Genetics Tuebingen RCV001200252 SCV001371157 likely pathogenic not provided 2020-11-01 criteria provided, single submitter clinical testing
Institute of Human Genetics, University of Leipzig Medical Center RCV001253286 SCV001428932 pathogenic Severe myoclonic epilepsy in infancy 2017-11-03 criteria provided, single submitter clinical testing

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