Click here to see the new Variation Report design!

NM_004408.3(DNM1):c.709C>T (p.Arg237Trp)

Variation ID: Help
280148
Review status: Help
criteria provided, multiple submitters, no conflicts2 stars out of maximum of 4 stars

Interpretation Help

Clinical significance:
Pathogenic
Last evaluated:
Nov 2, 2017
Number of submission(s):
3
Condition(s):
  • Epileptic encephalopathy, early infantile, 31 [MedGen - OMIM]
See supporting ClinVar records

Allele(s) Help

NM_004408.3(DNM1):c.709C>T (p.Arg237Trp)

Allele ID:
264472
Variant type:
single nucleotide variant
Cytogenetic location:
9q34.11
Genomic location:
  • Chr9: 128220201 (on Assembly GRCh38)
  • Chr9: 130982480 (on Assembly GRCh37)
Other names:
  • 130982480C-T
Protein change:
R237W
HGVS:
  • NG_029726.1:g.21818C>T
  • NM_001005336.2:c.709C>T
  • NM_004408.3:c.709C>T
  • NP_001005336.1:p.Arg237Trp
  • NP_004399.2:p.Arg237Trp
  • NC_000009.12:g.128220201C>T (GRCh38)
  • NC_000009.11:g.130982480C>T (GRCh37)
  • Q05193:p.Arg237Trp
Links:
NCBI 1000 Genomes Browser:
rs760270633
Molecular consequence:
NM_001005336.2:c.709C>T: missense variant [Sequence Ontology SO:0001583]

Variant frequency in dbGaP Help

No dbGaP data has been submitted for this variant.

Browser views

Assertion and evidence details

Germline

Clinical significance
(Last evaluated)
Review status
(Assertion method)
Collection methodCondition(s)
(Mode of inheritance)
OriginCitationsSubmitter - Study nameSubmission accession
Pathogenic
(Nov 2, 2017)
criteria provided, single submitter
clinical testinggermline
    GeneDxSCV000330044.5
    Pathogenic
    (Jun 14, 2017)
    criteria provided, single submitter
    clinical testing
    • Epileptic encephalopathy, early infantile, 31[MedGen | OMIM]
    germline
      InvitaeSCV000656484.1
      Pathogenic
      (Mar 12, 2015)
      no assertion criteria providedliterature only
      • Epileptic encephalopathy, early infantile, 31[MedGen | OMIM]
      germlineOMIMSCV000222930.2
      SubmitterFamiliesIndividualsAllele originEthnicityGeographic originCitations and DatabasesDescription
      Total for all submittersnot providednot providedgermlinenot providednot provided
      GeneDxnot providednot providedgermlinenot providednot providednot providedThe R237W missense variant in …Full description
      Invitaenot providednot providedgermlinenot providednot providednot providedThis sequence change replaces …Full description
      OMIMnot providednot providedgermlinenot providednot providednot provided
      SubmitterAllele originIndividualsPhenotypes (Affected status)EthnicityGeographic originCitationsDescription

      Last Updated: Jul 21, 2018