ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.2585G>A (p.Arg862Gln) (rs121918785)

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Total submissions: 5
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Center for Bioinformatics, Peking University RCV000059469 SCV000221906 pathogenic Severe myoclonic epilepsy in infancy 2014-12-20 criteria provided, single submitter research
EGL Genetic Diagnostics, Eurofins Clinical Diagnostics RCV000591357 SCV000707161 uncertain significance not provided 2017-05-05 criteria provided, single submitter clinical testing
Invitae RCV000798343 SCV000937956 likely pathogenic Early infantile epileptic encephalopathy with suppression bursts 2019-01-06 criteria provided, single submitter clinical testing This sequence change replaces arginine with glutamine at codon 862 of the SCN1A protein (p.Arg862Gln). The arginine residue is highly conserved and there is a small physicochemical difference between arginine and glutamine. This variant is not present in population databases (ExAC no frequency). This variant has been observed to be de novo and otherwise in individuals affected with Dravet syndrome (PMID: 21248271, 20110217). ClinVar contains an entry for this variant (Variation ID: 68593). Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive, but these predictions have not been confirmed by published functional studies and their clinical significance is uncertain. In summary, the currently available evidence indicates that the variant is pathogenic, but additional data are needed to prove that conclusively. Therefore, this variant has been classified as Likely Pathogenic.
Athena Diagnostics Inc RCV000591357 SCV001475469 likely pathogenic not provided 2020-06-23 criteria provided, single submitter clinical testing The frequency of this variant in the general population is consistent with pathogenicity. Predicted to have a damaging effect on the protein. Located in potentially critical domain of the protein. 2 de novo cases with parental identity not confirmed.
UniProtKB/Swiss-Prot RCV000059469 SCV000090994 not provided Severe myoclonic epilepsy in infancy no assertion provided not provided

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