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NM_001330260.2(SCN8A):c.5412G>C (p.Glu1804Asp) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Apr 15, 2021
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:
RCV001776476.2

Allele description [Variation Report for NM_001330260.2(SCN8A):c.5412G>C (p.Glu1804Asp)]

NM_001330260.2(SCN8A):c.5412G>C (p.Glu1804Asp)

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.5412G>C (p.Glu1804Asp)
HGVS:
  • NC_000012.12:g.51806898G>C
  • NG_021180.3:g.221941G>C
  • NM_001177984.3:c.5289G>C
  • NM_001330260.2:c.5412G>CMANE SELECT
  • NM_001369788.1:c.5289G>C
  • NM_014191.4:c.5412G>C
  • NP_001171455.1:p.Glu1763Asp
  • NP_001317189.1:p.Glu1804Asp
  • NP_001356717.1:p.Glu1763Asp
  • NP_055006.1:p.Glu1804Asp
  • LRG_1389t1:c.5412G>C
  • LRG_1389t2:c.5412G>C
  • LRG_1389:g.221941G>C
  • LRG_1389p1:p.Glu1804Asp
  • LRG_1389p2:p.Glu1804Asp
  • NC_000012.11:g.52200682G>C
  • NM_014191.3:c.5412G>C
Protein change:
E1763D
Links:
dbSNP: rs765354280
NCBI 1000 Genomes Browser:
rs765354280
Molecular consequence:
  • NM_001177984.3:c.5289G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.5412G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.5289G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.5412G>C - 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
SCV002013078GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Uncertain significance
(Apr 15, 2021) 		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, SCV002013078.2

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

Description

Not observed in large population cohorts (Lek et al., 2016); This substitution is predicted to be within the C-terminal cytoplasmic domain; In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; Missense variants in this gene are often considered pathogenic (Stenson et al., 2014); Has not been previously published as pathogenic or benign to our knowledge

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

Last Updated: Dec 24, 2023