MYH6 G56R - GET-Evidence

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

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(MYH6 Gly56Arg)

Short summary


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


Insufficiently evaluated not reviewed

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

Inheritance pattern


Summary of published research, and additional commentary


Allele frequency

  • T @ chr14:23876267: 8.3% (891/10758) in EVS
  • T @ chr14:22946106: 6.2% (8/128) in GET-Evidence
  • Frequency shown in summary reports: 8.3% (891/10758)



hu025CEA - CGI sample GS01669-DNA_D02 from PGP sample 27316983
het T @ chr14:23876267


hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr14:23876267


hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
het T @ chr14:23876267


hu92C40A - CGI sample GS01175-DNA_G03 from PGP sample 92527586
het T @ chr14:23876267


huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr14:23876267


huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr14:23876267


GS19648 - var-GS19648-1100-36-ASM
het T @ chr14:22946107


GS20502 - var-GS20502-1100-36-ASM
het T @ chr14:22946107


Other external references

  • rs28711516
  • GeneTests records for the MYH6 gene
    Familial Hypertrophic Cardiomyopathy
    MYH6-Related Familial Hypertrophic Cardiomyopathy
    Web search results (3 hits -- see all)
  • SNPs Identified in MYH6
    G56R. G/A. WIPGA_03_247. 61. chr14:21866568. 5' UTR. view. G/A. WIPGA_03_248. chr14:21866614 ... Candidate Gene List > MYH6 Main Page > SNPs Identified in MYH6 ...
  • {alpha}-Myosin Heavy Chain: A Sarcomeric Gene Associated With ...
    All MYH6 mutations were distributed in highly conserved residues, were predicted ... role of MYH6 mutations in mammals.7 In humans, an MYH6 mutation has ...

Other in silico analyses

  • NBLOSUM100 score = 6
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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