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NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Aug 15, 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:
RCV000924907.7

Allele description [Variation Report for NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr)]

NM_001330260.2(SCN8A):c.668G>C (p.Arg223Thr)

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.668G>C (p.Arg223Thr)
HGVS:
  • NC_000012.12:g.51689058G>C
  • NG_021180.3:g.104101G>C
  • NM_001177984.3:c.706+209G>C
  • NM_001330260.2:c.668G>CMANE SELECT
  • NM_001369788.1:c.668G>C
  • NM_014191.4:c.706+209G>C
  • NP_001317189.1:p.Arg223Thr
  • NP_001356717.1:p.Arg223Thr
  • LRG_1389t1:c.668G>C
  • LRG_1389t2:c.706+209G>C
  • LRG_1389:g.104101G>C
  • LRG_1389p1:p.Arg223Thr
  • NC_000012.11:g.52082842G>C
  • NM_014191.3:c.706+209G>C
Protein change:
R223T
Links:
dbSNP: rs1592380859
NCBI 1000 Genomes Browser:
rs1592380859
Molecular consequence:
  • NM_001177984.3:c.706+209G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014191.4:c.706+209G>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330260.2:c.668G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.668G>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
SCV002567507GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Aug 15, 2022) 		germlineclinical testing

Citation Link

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Summary from all submissions

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

Details of each submission

From GeneDx, SCV002567507.2

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

Description

This substitution is predicted to be within the Intracellular loop between the S4 and S5 transmembrane segments of the first homologous domain; Missense variants in this gene are often considered pathogenic (HGMD); Not observed at significant frequency in large population cohorts (gnomAD); In silico analysis supports that this missense variant has a deleterious effect on protein structure/function; 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: Sep 29, 2024