CSRP3 W4R - GET-Evidence

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CSRP3 W4R

(CSRP3 Trp4Arg)


You are viewing an old version of this page that was saved on November 13, 2012 at 3:35pm by Madeleine Ball.

Short summary

 

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

 

Total cases/controls case+ case– control+ control– p-value odds ratio
Dilated Cardiomyopathy
13 1165 2 851 0.0325 4.748

 

Allele frequency

  • G @ chr11:19213986: 0.4% (42/10758) in EVS
  • Frequency shown in summary reports: 0.4% (42/10758)

Publications
 

Knöll R, Hoshijima M, Hoffman HM, Person V, Lorenzen-Schmidt I, Bang ML, Hayashi T, Shiga N, Yasukawa H, Schaper W, McKenna W, Yokoyama M, Schork NJ, Omens JH, McCulloch AD, Kimura A, Gregorio CC, Poller W, Schaper J, Schultheiss HP, Chien KR. The cardiac mechanical stretch sensor machinery involves a Z disc complex that is defective in a subset of human dilated cardiomyopathy. Cell. 2002 Dec 27;111(7):943-55. PubMed PMID: 12507422.

Seen in 10 out of 526 DCM cases with European ethnic origin, and not seen in 320 age-matched European controls. The authors report this as “P < 0.01 by exact Fisher test”, but we calculate it to be p = 0.016 using a two-tailed Fisher’s Exact test.

Cases/controls case+ case– control+ control– p-value odds ratio
Dilated Cardiomyopathy
10 516 0 320 0.0164

 

Geier C, Gehmlich K, Ehler E, Hassfeld S, Perrot A, Hayess K, Cardim N, Wenzel K, Erdmann B, Krackhardt F, Posch MG, Osterziel KJ, Bublak A, Nägele H, Scheffold T, Dietz R, Chien KR, Spuler S, Fürst DO, Nürnberg P, Ozcelik C. Beyond the sarcomere: CSRP3 mutations cause hypertrophic cardiomyopathy. Hum Mol Genet. 2008 Sep 15;17(18):2753-65. Epub 2008 May 27. Erratum in: Hum Mol Genet. 2008 Nov 1;17(21):3436. Osterziel, Karl J [added]. PubMed PMID: 18505755.

Testing 652 DCM and 354 HCM patients, and 1066 chromosomes of control probands (= 533 individuals) this variant was seen in 3 DCM cases, 2 HCM, and 2 controls.

Cases/controls case+ case– control+ control– p-value odds ratio
Dilated Cardiomyopathy
3 649 2 531 1.0000 1.227

 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the CSRP3 gene
    Dilated Cardiomyopathy
    Familial Hypertrophic Cardiomyopathy
    CSRP3-Related Dilated Cardiomyopathy
    CSRP3-Related Familial Hypertrophic Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CSRP3
    PolyPhen-2
  • Score: 0.958 (probably damaging)

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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