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NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile) AND SCN4A-related disorder

Germline classification:
not provided (1 submission)
Review status:
no classification provided
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:
RCV000509130.4

Allele description [Variation Report for NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)]

NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)

Genes:
GH-LCR:growth hormone locus control region [Gene]
SCN4A:sodium voltage-gated channel alpha subunit 4 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
17q23.3
Genomic location:
Preferred name:
NM_000334.4(SCN4A):c.3877G>A (p.Val1293Ile)
HGVS:
  • NC_000017.11:g.63944708C>T
  • NG_011699.1:g.33211G>A
  • NG_042788.1:g.27616C>T
  • NM_000334.4:c.3877G>AMANE SELECT
  • NP_000325.4:p.Val1293Ile
  • NC_000017.10:g.62022068C>T
  • P35499:p.Val1293Ile
Protein change:
V1293I; VAL1293ILE
Links:
UniProtKB: P35499#VAR_001566; OMIM: 603967.0013; dbSNP: rs121908551
NCBI 1000 Genomes Browser:
rs121908551
Molecular consequence:
  • NM_000334.4:c.3877G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
SCN4A-related disorder
Identifiers:

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000606996GenomeConnect, ClinGen
no classification provided
not providedunknownphenotyping only

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedphenotyping only

Details of each submission

From GenomeConnect, ClinGen, SCV000606996.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedphenotyping onlynot provided

Description

GenomeConnect assertions are reported exactly as they appear on the patient-provided report from the testing laboratory. GenomeConnect staff make no attempt to reinterpret the clinical significance of the variant.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownyesnot providednot providedvalidationnot providednot providednot providednot provided

Last Updated: Oct 20, 2024