STRC Q1353X - GET-Evidence

Curation:
Currentness:

STRC Q1353X

(STRC Gln1353Stop)


Short summary

Reported by ClinVar to cause deafness in a dominant manner (https://www.ncbi.nlm.nih.gov/clinvar/variation/236066/). In ClinVar this variant is reported as a “pathogenic” cause of this disease by a single source, the Laboratory of Prof. Karen Avraham,Tel Aviv University. This submission does not reference any published literature. This variant is rare according to ExAC data, potentially consistent with the reported disease-causing hypothesis (http://exac.broadinstitute.org/variant/15-43896918-G-A).

Variant evidence
Computational -
Functional -
Case/Control

Evidence unknown.

Familial

Evidence unknown.

 
Clinical importance
Severity 3
Treatability 1
Penetrance 5
 

Impact

Moderate clinical importance, Uncertain pathogenic

(The "moderate clinical importance, uncertain" qualifier is assigned automatically based on the above evidence and importance scores.)

Inheritance pattern

dominant

Summary of published research, and additional commentary

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the STRC gene
    Nonsyndromic Hearing Loss and Deafness, Autosomal Recessive
    CATSPER-Related Male Infertility
    Deafness-Infertility Syndrome
    DFNB16 Nonsyndromic Hearing Loss and Deafness
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/STRC

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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