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NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs) AND Early infantile epileptic encephalopathy with suppression bursts

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 27, 2022
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV001975262.7

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs)]

NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs)

Gene:
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
Deletion
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.5823del (p.Ala1942fs)
HGVS:
  • NC_000012.12:g.51807309del
  • NG_021180.3:g.222352del
  • NM_001177984.3:c.5700del
  • NM_001330260.2:c.5823delMANE SELECT
  • NM_001369788.1:c.5700del
  • NM_014191.4:c.5823del
  • NP_001171455.1:p.Ala1901fs
  • NP_001317189.1:p.Ala1942fs
  • NP_001356717.1:p.Ala1901fs
  • NP_055006.1:p.Ala1942fs
  • LRG_1389t1:c.5823del
  • LRG_1389t2:c.5823del
  • LRG_1389:g.222352del
  • LRG_1389p1:p.Ala1942fs
  • LRG_1389p2:p.Ala1942fs
  • NC_000012.11:g.52201093del
Protein change:
A1901fs
Links:
dbSNP: rs2138944836
NCBI 1000 Genomes Browser:
rs2138944836
Molecular consequence:
  • NM_001177984.3:c.5700del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001330260.2:c.5823del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_001369788.1:c.5700del - frameshift variant - [Sequence Ontology: SO:0001589]
  • NM_014191.4:c.5823del - frameshift variant - [Sequence Ontology: SO:0001589]

Condition(s)

Name:
Early infantile epileptic encephalopathy with suppression bursts (EIEE)
Synonyms:
Early infantile epileptic encephalopathy; Ohtahara syndrome; Developmental and epileptic encephalopathy
Identifiers:
MONDO: MONDO:0100062; MedGen: C0393706; Orphanet: 1934; OMIM: PS308350

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002244679Labcorp Genetics (formerly Invitae), Labcorp
criteria provided, single submitter

(Invitae Variant Classification Sherloc (09022015))		Uncertain significance
(Jun 27, 2022) 		germlineclinical testing

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Sherloc: a comprehensive refinement of the ACMG-AMP variant classification criteria.

Nykamp K, Anderson M, Powers M, Garcia J, Herrera B, Ho YY, Kobayashi Y, Patil N, Thusberg J, Westbrook M; Invitae Clinical Genomics Group., Topper S.

Genet Med. 2017 Oct;19(10):1105-1117. doi: 10.1038/gim.2017.37. Epub 2017 May 11. Erratum in: Genet Med. 2020 Jan;22(1):240. doi: 10.1038/s41436-019-0624-9.

PubMed [citation]
PMID:
28492532
PMCID:
PMC5632818

Details of each submission

From Labcorp Genetics (formerly Invitae), Labcorp, SCV002244679.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

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. Experimental studies and prediction algorithms are not available or were not evaluated, and the functional significance of this variant is currently unknown. This variant has not been reported in the literature in individuals affected with SCN8A-related conditions. This variant is not present in population databases (gnomAD no frequency). This sequence change creates a premature translational stop signal (p.Ala1942Profs*9) in the SCN8A gene. While this is not anticipated to result in nonsense mediated decay, it is expected to disrupt the last 39 amino acid(s) of the SCN8A protein.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024