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NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jan 3, 2023
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:
RCV002509706.1

Allele description [Variation Report for NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)]

NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)

Genes:
LOC114803470:SCN8A eExon liver enhancer [Gene]
SCN8A:sodium voltage-gated channel alpha subunit 8 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q13.13
Genomic location:
Preferred name:
NM_001330260.2(SCN8A):c.82C>T (p.Arg28Cys)
HGVS:
  • NC_000012.12:g.51662899C>T
  • NG_021180.3:g.77942C>T
  • NG_064646.1:g.263C>T
  • NM_001177984.3:c.82C>T
  • NM_001330260.2:c.82C>TMANE SELECT
  • NM_001369788.1:c.82C>T
  • NM_014191.4:c.82C>T
  • NP_001171455.1:p.Arg28Cys
  • NP_001317189.1:p.Arg28Cys
  • NP_001356717.1:p.Arg28Cys
  • NP_055006.1:p.Arg28Cys
  • LRG_1389t1:c.82C>T
  • LRG_1389t2:c.82C>T
  • LRG_1389:g.77942C>T
  • LRG_1389p1:p.Arg28Cys
  • LRG_1389p2:p.Arg28Cys
  • NC_000012.11:g.52056683C>T
  • NM_014191.2:c.82C>T
  • NM_014191.3:c.82C>T
Protein change:
R28C
Links:
dbSNP: rs768570935
NCBI 1000 Genomes Browser:
rs768570935
Molecular consequence:
  • NM_001177984.3:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.82C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV002819063GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Jan 3, 2023) 		germlineclinical testing

Citation Link

Help

Summary from all submissions

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

Details of each submission

From GeneDx, SCV002819063.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided

Description

Observed de novo without confirmed parentage in multiple unrelated patients with seizures, global developmental delay, and abnormal EEG in published literature (Nashabat et al., 2019); Missense variants in this gene are often considered pathogenic (HGMD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; This substitution is predicted to be within the N-terminal cytoplasmic domain.; This variant is associated with the following publications: (PMID: 31031587, 31054490)

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

Last Updated: Sep 29, 2024