Evidence Repository - Clinical Genome Resources

The ClinGen Evidence Repository is an FDA-recognized human genetic variant database containing expert-curated assertions regarding variants' pathogenicity and supporting evidence summaries. [Disclaimer]

Variant: NM_001165963.4(SCN1A):c.4393A>G (p.Ile1465Val)

Curation Version - 1.0
Curation History
JSON LD for Version 1.0

CA295639

138982 (ClinVar)

Gene: SCN1A

Condition: Dravet syndrome

Inheritance Mode: Autosomal dominant inheritance

Link to MONDO

UUID: 2f97f4c1-c0d5-49d6-8cb1-55884d3eb9a1

Approved on: 2024-05-09

Published on: 2024-05-09

HGVS expressions

NM_001165963.4:c.4393A>G

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

NC_000002.12:g.165998121T>C

CM000664.2:g.165998121T>C

NC_000002.11:g.166854631T>C

CM000664.1:g.166854631T>C

NC_000002.10:g.166562877T>C

NG_011906.1:g.80519A>G

ENST00000689288.1:c.*2429A>G

ENST00000303395.9:c.4393A>G

ENST00000635750.1:c.4360A>G

ENST00000635776.1:c.4360A>G

ENST00000636194.1:c.*1886A>G

ENST00000637038.1:c.1255A>G

ENST00000637988.1:c.4360A>G

ENST00000640036.1:c.4360A>G

ENST00000641575.1:c.4357A>G

ENST00000641603.1:c.4111A>G

ENST00000641996.1:c.*3947A>G

ENST00000671940.1:c.*2336A>G

ENST00000673490.1:n.6866A>G

ENST00000674923.1:c.4393A>G

ENST00000303395.8:c.4393A>G

ENST00000375405.7:c.4360A>G

ENST00000409050.1:c.4309A>G

ENST00000423058.6:c.4393A>G

ENST00000473295.2:n.396A>G

NM_001165963.1:c.4393A>G

NM_001165964.1:c.4309A>G

NM_001202435.1:c.4393A>G

NM_006920.4:c.4360A>G

NR_110598.1:n.176-17492T>C

NM_001165963.2:c.4393A>G

NM_001165964.2:c.4309A>G

NM_001202435.2:c.4393A>G

NM_001353948.1:c.4393A>G

NM_001353949.1:c.4360A>G

NM_001353950.1:c.4360A>G

NM_001353951.1:c.4360A>G

NM_001353952.1:c.4360A>G

NM_001353954.1:c.4357A>G

NM_001353955.1:c.4357A>G

NM_001353957.1:c.4309A>G

NM_001353958.1:c.4309A>G

NM_001353960.1:c.4306A>G

NM_001353961.1:c.1951A>G

NM_006920.5:c.4360A>G

NR_148667.1:n.4829A>G

NM_001165963.3:c.4393A>G

NM_001165964.3:c.4309A>G

NM_001202435.3:c.4393A>G

NM_001353948.2:c.4393A>G

NM_001353949.2:c.4360A>G

NM_001353950.2:c.4360A>G

NM_001353951.2:c.4360A>G

NM_001353952.2:c.4360A>G

NM_001353954.2:c.4357A>G

NM_001353955.2:c.4357A>G

NM_001353957.2:c.4309A>G

NM_001353958.2:c.4309A>G

NM_001353960.2:c.4306A>G

NM_001353961.2:c.1951A>G

NM_006920.6:c.4360A>G

NR_148667.2:n.4810A>G

Benign

BA1

Evidence Links 0

Expert Panel

Epilepsy Sodium Channel VCEP

Criteria Specification Information

Criteria Specification: ClinGen Epilepsy Sodium Channel Expert Panel Specifications to the ACMG/AMP Variant Interpretation Guidelines for SCN1A Version 1.0.0

Criteria Specification Approval History

Criteria Specifications for this VCEP

Evidence submitted by expert panel

Epilepsy Sodium Channel VCEP

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).

BA1

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.

Curation History

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