SH2D1A M1I - GET-Evidence

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

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(SH2D1A Met1Ile)

Short summary


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


Insufficiently evaluated pathogenic

(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

  • None available.



Other external references

  • GeneTests records for the SH2D1A gene
    Lymphoproliferative Disease, X-Linked
    SH2D1A-Related Lymphoproliferative Disease, X-Linked
  • Score: 0.998 (probably damaging)
    Web search results (6 hits -- see all)
  • SH2 missense mutations
    A0014: Classical XLP A0015: Classical XLP A0016: Classical XLP ... M1I. A0045: Classical XLP. P101L. A0018: Classical XLP. Q99P. A0070: Classical XLP. R32T. A0013: ...
  • Analysis of SH2D1A mutations in patients with severe Epstein ...
    Mutations or deletions in the SH2D1A (src. homology 2 domain protein ... presence of SH2D1A gene alterations who presented. with fatal or nonfatal, yet unusually ... Hematol 2002.pdf
  • SH2D1Abase: X-linked lymphoproliferative syndrome (XLP ...
    ... reference in every entry // ID M1I(1); standard; MUTATION; Accession A0045 Original code A Description ... disease-causing mutation of RefTitle SH2D1A in a family with X-linked ...
  • Rna Containing Modified Nucleosides And Methods Of Use Thereof
    This invention provides RNA, oligoribonucleotide, and polyribonucleotide molecules comprising pseudouridine or a modified nucleoside, gene therapy vectors comprising ...

Other in silico analyses

  • NBLOSUM100 score = –1
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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