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NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala) AND not provided

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Dec 17, 2018
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:
RCV000442719.3

Allele description [Variation Report for NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala)]

NM_001330260.2(SCN8A):c.3092T>C (p.Val1031Ala)

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.3092T>C (p.Val1031Ala)
HGVS:
  • NC_000012.12:g.51769055T>C
  • NG_021180.3:g.184098T>C
  • NM_001177984.3:c.3092T>C
  • NM_001330260.2:c.3092T>CMANE SELECT
  • NM_001369788.1:c.3092T>C
  • NM_014191.4:c.3092T>C
  • NP_001171455.1:p.Val1031Ala
  • NP_001317189.1:p.Val1031Ala
  • NP_001356717.1:p.Val1031Ala
  • NP_055006.1:p.Val1031Ala
  • LRG_1389t1:c.3092T>C
  • LRG_1389t2:c.3092T>C
  • LRG_1389:g.184098T>C
  • LRG_1389p1:p.Val1031Ala
  • LRG_1389p2:p.Val1031Ala
  • NC_000012.11:g.52162839T>C
  • NM_014191.3:c.3092T>C
Protein change:
V1031A
Links:
dbSNP: rs1057524300
NCBI 1000 Genomes Browser:
rs1057524300
Molecular consequence:
  • NM_001177984.3:c.3092T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001330260.2:c.3092T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001369788.1:c.3092T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.3092T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000535120GeneDx
criteria provided, single submitter

(GeneDx Variant Classification (06012015))		Uncertain significance
(Dec 17, 2018) 		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, SCV000535120.4

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

Description

A variant of uncertain significance has been identified in the SCN8A gene. The V1031A variant has not been published as a pathogenic variant, nor has it been reported as a benign variant to our knowledge. The SCN8A variant is not observed in large population cohorts (Lek et al., 2016; 1000 Genomes Consortium et al., 2015; Exome Variant Server). This substitution occurs at a position that is conserved in mammals which is predicted to be within the cytoplasmic topological domain between S6 of second homologous domain and S1 of the third homologous domain. However, the V1031A variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. In silico analysis is inconsistent in its predictions as to whether or not the variant is damaging to the protein structure/function. Therefore, based on the currently available information, it is unclear whether this variant is a pathogenic variant or a rare benign variant.

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

Last Updated: Sep 29, 2024