ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4529C>T (p.Ala1510Val)

dbSNP: rs796053019
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Total submissions: 3
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
CeGaT Center for Human Genetics Tuebingen RCV000487743 SCV000575246 uncertain significance not provided 2016-09-01 criteria provided, single submitter clinical testing
Baylor Genetics RCV001328670 SCV001519838 likely pathogenic Generalized epilepsy with febrile seizures plus, type 2 2020-01-13 criteria provided, single submitter clinical testing This variant was determined to be likely pathogenic according to ACMG Guidelines, 2015 [PMID:25741868].
Invitae RCV001385358 SCV001585191 pathogenic Early infantile epileptic encephalopathy with suppression bursts 2020-11-14 criteria provided, single submitter clinical testing For these reasons, this variant has been classified as Pathogenic. Advanced modeling of protein sequence and biophysical properties (such as structural, functional, and spatial information, amino acid conservation, physicochemical variation, residue mobility, and thermodynamic stability) performed at Invitae indicates that this missense variant is expected to disrupt SCN1A protein function. This variant has been observed in individual(s) with Dravet syndrome (PMID: 30619928). In at least one individual the variant was observed to be de novo. ClinVar contains an entry for this variant (Variation ID: 425224). This variant is not present in population databases (ExAC no frequency). This sequence change replaces alanine with valine at codon 1510 of the SCN1A protein (p.Ala1510Val). The alanine residue is highly conserved and there is a small physicochemical difference between alanine and valine.

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