MYH9 R1466W - GET-Evidence

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

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MYH9 R1466W

(MYH9 Arg1466Trp)

Short summary

Predicted to be damaging, other substitutions in this gene cause a variety of dominantly-inherited syndromes. This variant is reported homozygously in one PGP participant and not seen in the other 63 genomes examined by GET-Evidence — this is extremely unlikely. This variant hasn’t been validated and may be a sequencing error.

Variant evidence
Computational 2

Polyphen 2 predicts damaging effect, BLOSUM100 score indicates Arg to Trp substitution is disruptive.

Functional -

Unreported, no known effect.

Familial -
Clinical importance
Severity -

No known effect, potentially pathogenic

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

  • A @ chr22:36685292: 0.4% (38/10758) in EVS
  • A @ chr22:35015237: 1.6% (2/128) in GET-Evidence
  • Frequency shown in summary reports: 0.4% (38/10758)



hu0D879F - CGI sample GS00253-DNA_G01_200_37
hom A @ chr22:36685292


Other external references

  • GeneTests records for the MYH9 gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Dominant
    DFNA17 Nonsyndromic Hearing Loss and Deafness
    Epstein Syndrome
    Fechtner Syndrome
    May-Hegglin Anomaly
    MYH9-Related Disorders
    Sebastian Syndrome
  • Score: 0.997 (probably damaging)
    Web search results (0 hits -- see all)

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history

Gene search

"GENE" or "GENE A123C":

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