CSRP3 W4R - GET-Evidence

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

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(CSRP3 Trp4Arg)

You are viewing an old version of this page that was saved on November 13, 2012 at 3:34pm by Madeleine Ball.

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


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


Allele frequency

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


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


Edited in this revision:

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.


Other external references

  • GeneTests records for the CSRP3 gene
    Dilated Cardiomyopathy
    Familial Hypertrophic Cardiomyopathy
    CSRP3-Related Dilated Cardiomyopathy
    CSRP3-Related Familial Hypertrophic Cardiomyopathy
  • 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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