HLCS L237P - GET-Evidence

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(HLCS Leu237Pro)

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


Allele frequency

  • None available.



Other external references

  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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 ...
  • 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. ...
  • 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 ...
  • 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. ...

Other in silico analyses

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

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Gene search

"GENE" or "GENE A123C":

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