CSRP3 variants in HCM cohorts

The table below lists the 11 rare (MAF<0.0001 in ExAC) protein-altering CSRP3 variants identified in a cohort of 2167 HCM patients (1535 patients from OMGL, 632 patients from LMM). When this rare variant frequency of 0.00508 is compared with a background population rate of 0.00324, there is a case excess of 0.00184, although this is not statistically significant for protein-altering CSRP3 variants in HCM (p=0.1766).

Variant Type:      All protein-altering variants     -     Truncating variants     -     Non-Truncating variants
Source:      Combined (OMGL + LMM)     -     OMGL     -     LMM

No. Variant (CDS) Variant (Protein) Variant Type Cases (2167)OMGL classLMM class ExAC frequency
1. c.131T>C p.L44Pmissense 3Likely Pathogenic (2)VUS favour pathogenic (1)0.000000
2. c.152C>A p.A51Dmissense 1VUS (1)0.000000
3. c.197A>G p.Y66Cmissense 1VUS (1)0.000008
4. c.509-3_509-2delCA essential splice site 1VUS favour benign (1)0.000024
5. c.191G>A p.R64Hmissense 1VUS (1)0.000032
6. c.112+1G>A essential splice site 1Likely Pathogenic (1)0.000066
7. c.282-5_285delAACAGGTCC frameshift 1VUS favour pathogenic (1)0.000000
8. c.379G>A p.V127Imissense 1VUS (1)0.000041
9. c.140C>T p.T47Mmissense 1VUS (1)0.000016


1. Roddy Walsh, Kate L. Thomson, James S. Ware, Birgit H. Funke, Jessica Woodley, Karen J. McGuire, Francesco Mazzarotto, Edward Blair, Anneke Seller, Jenny C. Taylor, Eric V. Minikel, Exome Aggregation Consortium, Daniel G. MacArthur, Martin Farrall, Stuart A. Cook and Hugh Watkins. Reassessment of Mendelian gene pathogenicity using 7,855 cardiomyopathy cases and 60,706 reference samples. Genet Med. 2016 doi:10.1038/gim.2016.90.

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