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NM_001330260.2(SCN8A):c.631G>T (p.Val211Leu) AND SCN8A-related disorder

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Mar 14, 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:
RCV004527832.1

Allele description [Variation Report for NM_001330260.2(SCN8A):c.631G>T (p.Val211Leu)]

NM_001330260.2(SCN8A):c.631G>T (p.Val211Leu)

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.631G>T (p.Val211Leu)
HGVS:
  • NC_000012.12:g.51689021G>T
  • NG_021180.3:g.104064G>T
  • NM_001177984.3:c.706+172G>T
  • NM_001330260.2:c.631G>TMANE SELECT
  • NM_001369788.1:c.631G>T
  • NM_014191.4:c.706+172G>T
  • NP_001317189.1:p.Val211Leu
  • NP_001356717.1:p.Val211Leu
  • LRG_1389t1:c.631G>T
  • LRG_1389t2:c.706+172G>T
  • LRG_1389:g.104064G>T
  • LRG_1389p1:p.Val211Leu
  • NC_000012.11:g.52082805G>T
  • NM_001330260.1:c.631G>T
Protein change:
V211L
Molecular consequence:
  • NM_001177984.3:c.706+172G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_014191.4:c.706+172G>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001330260.2:c.631G>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.631G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SCN8A-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV004111887PreventionGenetics, part of Exact Sciences
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Mar 14, 2023) 		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

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]
PMID:
25741868
PMCID:
PMC4544753

Details of each submission

From PreventionGenetics, part of Exact Sciences, SCV004111887.1

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

Description

The SCN8A c.631G>T variant is predicted to result in the amino acid substitution p.Val211Leu. This variant corresponds to a deep intronic position in the primary transcript of this gene (NM_014191.3:c.706+172G>T). To our knowledge, this variant has not been reported in the literature or in a large population database (http://gnomad.broadinstitute.org), indicating this variant is rare. However, flanking deep intronic variants in an alternative spliced exon 5 have been reported de novo in individuals with autosomal dominant epileptic encephalopathy and global developmental delay (NM_014191.3:c.706+173T>C reported as ENST00000551216.1:c.26T>C and NM_014191.3:c.706+208A>G reported as ENST00000551216.1:c.61A>G, Table 1, Berkovic et al. 2019. PubMed ID: 30951195). At this time, the clinical significance of this variant is uncertain due to the absence of conclusive functional and genetic evidence.

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

Last Updated: Nov 3, 2024