ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.5351T>A (p.Val1784Asp)

dbSNP: rs1057518671
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Total submissions: 2
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Labcorp Genetics (formerly Invitae), Labcorp RCV002298690 SCV002593161 uncertain significance Early infantile epileptic encephalopathy with suppression bursts 2022-07-29 criteria provided, single submitter clinical testing In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. 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. ClinVar contains an entry for this variant (Variation ID: 488186). This variant has not been reported in the literature in individuals affected with SCN1A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change replaces valine, which is neutral and non-polar, with aspartic acid, which is acidic and polar, at codon 1784 of the SCN1A protein (p.Val1784Asp).
Foundation for Research in Genetics and Endocrinology, FRIGE's Institute of Human Genetics RCV000578114 SCV000678244 uncertain significance Severe myoclonic epilepsy in infancy 2017-11-07 no assertion criteria provided clinical testing The observed variant c.5351T>A (p.V1784D) has not been reported in The 1000 Genomes or ExAC databases. Also, it has not been reported in any literature. The in silico prediction of the variant is found to be damaging by SIFT, LRT, MutationTaster2, PolyPhen-2, Mutation Assessor and FATHMM.

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