HLCS L237P - GET-Evidence

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

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Curation:
Currentness:

HLCS L237P

(HLCS Leu237Pro)


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
 

    PolyPhen-2
  • Score: 0.995 (probably damaging)
    Web search results (9 hits -- see all)
  • Multiple CoA Carboxylase Deficiency (Holocarboxylase ...
    Holocarboxylase Synthetase Deficiency (HLCS) is an autosomal recessive inborn ... HLCS enzyme deficiency is caused by mutations in the HLCS gene ...
    genetics.emory.edu/egl/test.php?test_id=183
  • OMIM: 609018
    MOLECULAR GENETICS In sibs with HLCS deficiency, Suzuki et al. (1994) demonstrated ... HLCS, 1-BP DEL, 780G In a cell line from a patient with HLCS deficiency ...
    www.genome.jp/dbget-bin/www_bget?omim+609018
  • Reduced half-life of holocarboxylase synthetase from patients ...
    the HLCS deficiency was further investigated by characterisation of the p.L216R protein. ... p.L237P, was only able to restore PCC activity to 65% controls at the highest biotin ...
    www.sc.mahidol.ac.th/scbc/bc_internet/publication/918.pdf
  • ホロカルボキシラーゼ合成酵素欠損症
    日本人においては、c.710T>C (p.L237P)と c.780delG の 2 種類の変異が変異アレルの 50%を占めて ... gene HLCS. Hum Mutat 2005; 26:285-290. ONJ検査情報 GeneTestInfo-HLCS ver2.1.1. 2 ...
    www.onj.jp/list/download/HLCS.pdf
  • TropHort: Top > Research > Holocarboxylase - Page 1
    The different phenotypes may be related to a spectrum of mutations in HLCS gene. ... not the L237P cDNA The Vmax for the expressed L237P cDNA was 4.3% of ...
    trophort.com/research/h/078/holocarboxylase.php
  • Mutations in the holocarboxylase synthetase gene HLCS.
    Holocarboxylase synthetase (HLCS) deficiency is an autosomal recessive disorder. ... The mutations p.L237P and c.780delG are predominant only in Japanese patients. ...
    www.medscape.com/medline/abstract/16134170?prt=true
  • Multiple CoA Carboxylase Deficiency (Holocarboxylase ...
    HLCS enzyme deficiency is caused by mutations in the HLCS gene ... phenotype correlation, e.g. the missense mutations L237P and L470S and the null ...
    genetics.emory.edu/egl/test.php?test_id=238
  • PubMed: 16134170
    Since the first report of the cDNA sequence, 30 mutations in the HLCS gene have been reported. ... The mutations p.L237P and c.780delG are predominant only in Japanese patients. ...
    www.genome.jp/dbget-bin/www_bget?pubmed:16134170

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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