SGCD W30X - GET-Evidence

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

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Curation:
Currentness:

SGCD W30X

(SGCD Trp30Stop)


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

 

Allele frequency

  • None available.

Publications
 

Genomes
 

Other external references
 

    GeneTests
  • GeneTests records for the SGCD gene
    Limb-Girdle Muscular Dystrophies, Autosomal Recessive
    Sarcoglycanopathies
    Dilated Cardiomyopathy
    Delta-Sarcoglycanopathy
    SGCD-Related Dilated Cardiomyopathy
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/SGCD
    Web search results (2 hits -- see all)
  • PII: S0960-8966(00)00100-0
    656 in exon 7) [7], two nonsense (R165X, W30X) [10] and. one missense (E262K) [11] mutations have been ... Vazquez et al. [17], the Sgcd null mice developed. signi®cant ...
    www.vincenzonigro.it/dincer nd.pdf
  • OMIM: 601411
    They found that only Sgcd-null mice developed cardiomyopathy with focal areas of ... A transition in the SGCD gene, resulting in a trp30-to-ter (W30X) substitution. ...
    www.genome.jp/dbget-bin/www_bget?omim+601411

Other in silico analyses
 

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history
 

Gene search

"GENE" or "GENE A123C":

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