GRM6 I405T - GET-Evidence

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

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GRM6 I405T

(GRM6 Ile405Thr)

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

  • G @ chr5:178416076: 0.0% (2/10756) in EVS
  • Frequency shown in summary reports: 0.0% (2/10756)



Other external references

  • Score: 0.924 (probably damaging)
    Web search results (3 hits -- see all)
  • CSNBgenetest
    Ophthalmogenetic testing for retinal disorders - autosomal dominant optic atrophy (OPA1 gene)
  • Congenital Stationary Night Blindness test
    acid change I405T. DNA from customer. DNA. fragmentation. PCR. Data to ... 4. Mutations in GRM6 cause autosomal recessive congenital stationary night ...
  • OMIM: 604096
    ... in the GRM6 gene, resulting in an ile405-to-thr (I405T) substitution in the extracellular ... expression studies showed that the I405T substitution resulted in impaired protein ...

Other in silico analyses

  • NBLOSUM100 score = 3
  • GET-Evidence autoscore = 5

Edit history

Gene search

"GENE" or "GENE A123C":

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