NOTCH3 V1183M - GET-Evidence

Note: This variant has not been sufficiently evaluated by a GET-Evidence editor.

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(NOTCH3 Val1183Met)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(The "insufficiently evaluated" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr19:15290007: 9.1% (974/10756) in EVS
  • T @ chr19:15151006: 10.3% (13/126) in GET-Evidence
  • Frequency shown in summary reports: 9.1% (974/10756)


Schmidt H, Zeginigg M, Wiltgen M, Freudenberger P, Petrovic K, Cavalieri M, Gider P, Enzinger C, Fornage M, Debette S, Rotter JI, Ikram MA, Launer LJ, Schmidt R; CHARGE consortium Neurology working group. Genetic variants of the NOTCH3 gene in the elderly and magnetic resonance imaging correlates of age-related cerebral small vessel disease. Brain. 2011 Nov;134(Pt 11):3384-97. Epub 2011 Oct 17. PubMed PMID: 22006983; PubMed Central PMCID: PMC3212720.

this paper predicts V1183M to be functional, with other four (not the V1183M and V1952M), exclusively or mainly detected in subjects with severe white matter lesions, and V1183M not being exclusively present in such subjects.



GS07357 - var-GS07357-1100-36-ASM
het T @ chr19:15151007


GS18502 - var-GS18502-1100-36-ASM
het T @ chr19:15151007


GS18508 - var-GS18508-1100-36-ASM
het T @ chr19:15151007


GS18517 - var-GS18517-1100-36-ASM
het T @ chr19:15151007


GS19025 - var-GS19025-1100-36-ASM
het T @ chr19:15151007


GS19026 - var-GS19026-1100-36-ASM
het T @ chr19:15151007


GS19129 - var-GS19129-1100-36-ASM
hom T @ chr19:15151007


GS19238 - var-GS19238-1100-36-ASM
hom T @ chr19:15151007


GS19240 - var-GS19240-1100-36-ASM
het T @ chr19:15151007


GS19703 - var-GS19703-1100-36-ASM
hom T @ chr19:15151007


GS19834 - var-GS19834-1100-36-ASM
het T @ chr19:15151007


Other external references

  • rs10408676
  • Score: 0.053 (benign)
    Web search results (1 hit -- see all)
  • Poster Session
    The genetic diagnosis is confirmed when NOTCH3 gene mutations affecting cystein residues are found. ... p.A1020P in homozigoty (exon 19), p.S497L (exon 9) and p.V1183M (exon 22) ...

Other in silico analyses

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 3

Edit history

Gene search

"GENE" or "GENE A123C":

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