DHCR7 V326L - GET-Evidence

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

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Curation:
Currentness:

DHCR7 V326L

(DHCR7 Val326Leu)


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: 0.725 (possibly damaging)
    Web search results (86 hits -- see all)
  • Frequency gradients of DHCR7 mutations in patients with Smith ...
    More than 40 mutations in the DHCR7 gene some of which are frequent have been described ... 1G > C and V326L alleles shared the same DHCR7 haplotype, whereas the ...
    www.ncbi.nlm.nih.gov/pubmed/11175299
  • Normal Cognition and Behavior in a Smith-Lemli-Opitz Syndrome ...
    Reduced activity of 7-dehydrocholesterol Δ7-reductase (DHCR7), an enzyme that catalyzes a necessary step in cholesterol ... Note proband's mutations F284L and V326L. ...
    www.ncbi.nlm.nih.gov/pmc/articles/PMC1201564
  • Medline ® Abstract for Reference of 'Congenital aganglionic ...
    JavaScript is required in order for our site to behave correctly. ... molecular studies identified two missense mutations in DHCR7: V326L and F284L. ...
    uptodate.com/patients/content/abstract.do?...&refNum=14
  • Frequency gradients of DHCR7 mutations in patients with Smith ...
    V326L shows the same distribution pattern (Poland 0.23, Germany/Austria 0.18, Britain ... 1G > C and V326L alleles shared the same DHCR7 haplotype, whereas the ...
    www.nature.com/ejhg/journal/v9/n1/abs/5200579a.html
  • Mutations in the Delta7-sterol reductase gene in patients ...
    The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein expression by >90 ... strongly suggest that defects in the DHCR7 gene cause the SLOS. ...
    www.medscape.com/medline/abstract/9653161
  • Unit on Molecular Dysmorphology
    Other common mutations include W151X, V326L, R404C, and R352W. SLOS may be more common ... the common W151X allele, DHCR7 enzymatic activity does not increase. ...
    2005annualreport.nichd.nih.gov/hdb/umd.htm
  • Medline ® Abstract for Reference of 'Causes and clinical ...
    The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous protein expression by>90 ... strongly suggest that defects in the DHCR7 gene cause the SLOS. ...
    uptodate.com/patients/content/abstract.do?...&refNum=8
  • Abstracts of Lectures
    W151X, T93M, and V326L mutations in 2250. healthy individuals from different European pop ... Using eight cSNPs in the DHCR7 gene haplo. types were constructed for ...
    www.gfhev.de/abstracts_kongresse/2002Abstracts.pdf
  • Smith-Lemli-Opitz Syndrome :: genetics
    It is caused by mutations in DHCR7 gene, which codes one of the cholesterol ... The missense mutations L99P, V326L, R352W, R404C, and G410S reduced heterologous ...
    lib.bioinfo.pl/meid:19966
  • Unit on Molecular Dysmorphology
    Other common mutations include W151X, V326L, R404C, and R352W. ... two missense alleles (Dhcr7T93M and Dhcr7L99P) and a conditional Dhcr7 mutant allele (Dhcr7 loxPΔ3-5loxP) ...
    2004annualreport.nichd.nih.gov/hdb/umd.htm

Other in silico analyses
 

  • NBLOSUM100 score = 0
  • GET-Evidence autoscore = 5

Edit history
 

Gene search

"GENE" or "GENE A123C":

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