NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val) AND not provided

Clinical significance:Uncertain significance (Last evaluated: Mar 22, 2016)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000215091.1

Allele description [Variation Report for NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)]

NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)

Gene:
SCN9A:sodium voltage-gated channel alpha subunit 9 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q24.3
Genomic location:
Preferred name:
NM_001365536.1(SCN9A):c.184A>G (p.Ile62Val)
HGVS:
  • NC_000002.12:g.166311573T>C
  • NG_012798.1:g.69415A>G
  • NM_001365536.1:c.184A>GMANE SELECT
  • NM_002977.3:c.184A>G
  • NP_001352465.1:p.Ile62Val
  • NP_002968.1:p.Ile62Val
  • LRG_369t1:c.184A>G
  • LRG_369:g.69415A>G
  • LRG_369p1:p.Ile62Val
  • NC_000002.11:g.167168083T>C
  • Q15858:p.Ile62Val
Protein change:
I62V; ILE62VAL
Links:
UniProtKB: Q15858#VAR_064596; OMIM: 603415.0020; dbSNP: rs121908920
NCBI 1000 Genomes Browser:
rs121908920
Molecular consequence:
  • NM_001365536.1:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]
  • NM_002977.3:c.184A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Identifiers:
MedGen: CN517202

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000279165GeneDxcriteria provided, single submitter
Uncertain significance
(Mar 22, 2016)
germlineclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From GeneDx, SCV000279165.9

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

Description

The I62V variant has been reported previously in a Hispanic patient with febrile seizures (Singh et al., 2009). The patient was a heterozygous carrier of this variant; however, family studies were not performed. The I62V variant was not identified in 276 ethnically matched control chromosomes (Singh et al., 2009). The I62V variant was not observed in approximately 6,400 individuals of European and African American ancestry in the NHLBI Exome Sequencing Project, indicating it is not a common benign variant in these populations. The I62V variant is a conservative amino acid substitution, which is not likely to impact secondary protein structure as these residues share similar properties. However, this substitution occurs at a position that is conserved across species, and in silico analysis predicts this variant is probably 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: Oct 8, 2021

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