ClinVar Miner

Submissions for variant NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)

gnomAD frequency: 0.00121  dbSNP: rs138231868
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Total submissions: 7
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
ClinGen Epilepsy Sodium Channel Variant Curation Expert Panel, Clingen RCV004577514 SCV005061722 benign Severe myoclonic epilepsy in infancy 2024-05-09 reviewed by expert panel curation This is a missense variant in SCN1A, c.4393A>G, (p.Ile1465Val). This variant is present in gnomAD at 0.04% within the total population, with the highest sub-population frequency of 0.4% within the African/African population American population (BA1). In summary, this variant meets criteria to be classified as benign for autosomal dominant dravet syndrome based on the ACMG/AMP criteria applied, as specified by the ClinGen Epilepsy Sodium Channel VCEP: BA1 (version 1.0; approved 6/13/23).
GeneDx RCV000153886 SCV000171472 benign not specified 2014-04-03 criteria provided, single submitter clinical testing This variant is considered likely benign or benign based on one or more of the following criteria: it is a conservative change, it occurs at a poorly conserved position in the protein, it is predicted to be benign by multiple in silico algorithms, and/or has population frequency not consistent with disease.
Eurofins Ntd Llc (ga) RCV000153886 SCV000203497 benign not specified 2014-02-07 criteria provided, single submitter clinical testing
PreventionGenetics, part of Exact Sciences RCV000153886 SCV000307036 benign not specified criteria provided, single submitter clinical testing
Labcorp Genetics (formerly Invitae), Labcorp RCV000457065 SCV000559691 likely benign Early infantile epileptic encephalopathy with suppression bursts 2024-01-29 criteria provided, single submitter clinical testing
Ambry Genetics RCV002316404 SCV000851166 likely benign Inborn genetic diseases 2018-02-05 criteria provided, single submitter clinical testing This alteration is classified as likely benign based on a combination of the following: seen in unaffected individuals, population frequency, intact protein function, lack of segregation with disease, co-occurrence, RNA analysis, in silico models, amino acid conservation, lack of disease association in case-control studies, and/or the mechanism of disease or impacted region is inconsistent with a known cause of pathogenicity.
Breakthrough Genomics, Breakthrough Genomics RCV004710540 SCV005256470 likely benign not provided criteria provided, single submitter not provided

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