NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro) AND not provided

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jul 22, 2024
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:
RCV000484434.2

Allele description [Variation Report for NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro)]

NM_014191.4(SCN8A):c.649T>C (p.Ser217Pro)

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_014191.4(SCN8A):c.649T>C (p.Ser217Pro)
HGVS:
  • NC_000012.12:g.51688792T>C
  • NG_021180.3:g.103835T>C
  • NM_001177984.3:c.649T>C
  • NM_001330260.2:c.615-213T>CMANE SELECT
  • NM_001369788.1:c.615-213T>C
  • NM_014191.4:c.649T>C
  • NP_001171455.1:p.Ser217Pro
  • NP_055006.1:p.Ser217Pro
  • LRG_1389t1:c.615-213T>C
  • LRG_1389t2:c.649T>C
  • LRG_1389:g.103835T>C
  • LRG_1389p2:p.Ser217Pro
  • NC_000012.11:g.52082576T>C
  • NM_014191.3:c.649T>C
Protein change:
S217P
Links:
dbSNP: rs1064794715
NCBI 1000 Genomes Browser:
rs1064794715
Molecular consequence:
  • NM_001330260.2:c.615-213T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001369788.1:c.615-213T>C - intron variant - [Sequence Ontology: SO:0001627]
  • NM_001177984.3:c.649T>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_014191.4:c.649T>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Synonyms:
none provided
Identifiers:
MedGen: C3661900

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Assertion and evidence details

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Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000569788GeneDx
criteria provided, single submitter

(GeneDx Variant Classification Process June 2021)		Pathogenic
(Jul 22, 2024) 		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, SCV000569788.5

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

Description

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; This substitution is predicted to be within the extracellular loop between the S3 and S4 transmembrane segments of the first homologous domain; This variant is associated with the following publications: (PMID: 38771640)

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

Last Updated: Oct 8, 2024