MYH9 R1466W - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

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 -
Case/Control

Unreported, no known effect.

Familial -
 
Clinical importance
Severity -

No known effect, potentially pathogenic

Treatability -
Penetrance -
 

Impact

Insufficiently evaluated pathogenic

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

Inheritance pattern

unknown

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)

Publications
 

Genomes
 

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

 

Other external references
 

    GeneTests
  • 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
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/MYH9
    PolyPhen-2
  • 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":

Log in