CLCN1 P727L - GET-Evidence

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

To be considered sufficiently evaluated a variant must have both "variant evidence" and "clinical importance" scores filled in.

Please help improve GET-Evidence by evaluating evidence for this variant!

Curation:
Currentness:

CLCN1 P727L

(CLCN1 Pro727Leu)


Short summary

 

Variant evidence
Computational 3

PolyPhen: Benign, score 0.001
SIFT: Affect protein function 0.00
GVGD: GV 0.00; GD 97.78; Class C65
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.26);
PolyPhen=possibly_damaging(0.565);
Condel=deleterious(0.585)
Mutation Tasting Prediction: Polymorphism, P value: 0. 086961; protein features (might be) affected (aa 574-988 TOPO_DOM Cytoplasmic (By similarity) gets lost)

Functional -
Case/Control -
Familial -
 
Clinical importance
Severity -
Treatability -
Penetrance -
 

Impact

Insufficiently evaluated not reviewed

(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

  • T @ chr7:143043240: 42.4% (4563/10758) in EVS
  • T @ chr7:142753361: 41.1% (51/124) in GET-Evidence
  • Frequency shown in summary reports: 42.4% (4563/10758)

Publications
 

Genomes
 

hu04FD18 - CGI sample GS00253-DNA_F01_200_37
het T @ chr7:143043240

 

hu0D879F - CGI sample GS00253-DNA_G01_200_37
het T @ chr7:143043240

 

 

hu2D6140 - CGI sample GS01173-DNA_F06 from PGP sample 64191565
hom T @ chr7:143043240

 

 

hu342A08 - CGI sample GS01175-DNA_B05 from PGP sample 83494370
het T @ chr7:143043240

 

 

hu38168C - CGI sample GS01173-DNA_H06 from PGP sample 91708424
het T @ chr7:143043240

 

hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
hom T @ chr7:143043240

 

hu4040B8 - CGI sample GS01175-DNA_D01 from PGP sample 31286272
hom T @ chr7:143043240

 

hu43860C - CGI sample GS00253-DNA_A01_200_37
het T @ chr7:143043240

 

hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom T @ chr7:143043240

 

 

 

hu72A81D - CGI sample GS01173-DNA_C02 from PGP sample 10366372
het T @ chr7:143043240

 

hu7A4AD1 - CGI sample GS01669-DNA_C05 from PGP sample 42408046
het T @ chr7:143043240

 

hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het T @ chr7:143043240

 

hu92FD55 - CGI sample GS01669-DNA_A04 from PGP sample 08188426
het T @ chr7:143043240

 

hu9385BA - CGI sample GS00253-DNA_E01_200_37
het T @ chr7:143043240

 

huA0E089 - CGI sample GS01175-DNA_B04 from PGP sample 88590671
het T @ chr7:143043240

 

 

huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het T @ chr7:143043240

 

huAE6220 - CGI sample GS00253-DNA_H01_200_37
het T @ chr7:143043240

 

huBAAC98 - CGI sample GS01173-DNA_F02 from PGP sample 70008981
het T @ chr7:143043240

 

huC30901 - CGI sample GS00253-DNA_B01_200_37
hom T @ chr7:143043240

 

huD37D14 - CGI sample GS01175-DNA_A04 from PGP sample 13272228
het T @ chr7:143043240

 

huE80E3D - CGI sample GS00253-DNA_D01_200_37
hom T @ chr7:143043240

 

huFAF983 - CGI sample GS01175-DNA_F02 from PGP sample 95788191
hom T @ chr7:143043240

 

huFFAD87 - CGI sample GS01669-DNA_H05 from PGP sample 10971581
hom T @ chr7:143043240

 

GS06985 - var-GS06985-1100-36-ASM
het T @ chr7:142753362

 

GS12004 - var-GS12004-1100-36-ASM
het T @ chr7:142753362

 

GS18501 - var-GS18501-1100-36-ASM
hom T @ chr7:142753362

 

GS18502 - var-GS18502-1100-36-ASM
het T @ chr7:142753362

 

GS18504 - var-GS18504-1100-36-ASM
het T @ chr7:142753362

 

GS18505 - var-GS18505-1100-36-ASM
hom T @ chr7:142753362

 

GS18508 - var-GS18508-1100-36-ASM
het T @ chr7:142753362

 

GS18526 - var-GS18526-1100-36-ASM
het T @ chr7:142753362

 

GS18947 - var-GS18947-1100-36-ASM
het T @ chr7:142753362

 

GS19017 - var-GS19017-1100-36-ASM
hom T @ chr7:142753362

 

GS19020 - var-GS19020-1100-36-ASM
het T @ chr7:142753362

 

GS19026 - var-GS19026-1100-36-ASM
hom T @ chr7:142753362

 

GS19129 - var-GS19129-1100-36-ASM
hom T @ chr7:142753362

 

GS19238 - var-GS19238-1100-36-ASM
het T @ chr7:142753362

 

GS19239 - var-GS19239-1100-36-ASM
het T @ chr7:142753362

 

GS19240 - var-GS19240-1100-36-ASM
hom T @ chr7:142753362

 

GS19649 - var-GS19649-1100-36-ASM
het T @ chr7:142753362

 

GS19669 - var-GS19669-1100-36-ASM
hom T @ chr7:142753362

 

GS19701 - var-GS19701-1100-36-ASM
het T @ chr7:142753362

 

GS19703 - var-GS19703-1100-36-ASM
het T @ chr7:142753362

 

GS19704 - var-GS19704-1100-36-ASM
het T @ chr7:142753362

 

GS19834 - var-GS19834-1100-36-ASM
het T @ chr7:142753362

 

GS20502 - var-GS20502-1100-36-ASM
het T @ chr7:142753362

 

GS20509 - var-GS20509-1100-36-ASM
het T @ chr7:142753362

 

GS21767 - var-GS21767-1100-36-ASM
het T @ chr7:142753362

 

Other external references
 

    dbSNP
  • rs13438232
    www.ncbi.nlm.nih.gov/projects/SNP/snp_ref.cgi
    GeneTests
  • GeneTests records for the CLCN1 gene
    Myotonia Congenita
    Myotonia Congenita, Autosomal Dominant
    Myotonia Congenita, Autosomal Recessive
    www.ncbi.nlm.nih.gov/sites/GeneTests/lab/gene/CLCN1
    Web search results (18 hits -- see all)
  • Spectrum of CLCN1 mutations in patients with myotonia ...
    Spectrum of CLCN1 mutations in patients with myotonia congenita in ... In total, eight different mutations and three polymorphisms (T87T, D718D, and P727L) were detected. ...
    www.nature.com/ejhg/journal/v9/n12/abs/5200736a.html
  • 기획매니아 :: 통합검색
    Spectrum of CLCN1 mutations in patients with myotonia congenita in Northern Scandinavia ... In total, eight ... and three polymorphisms (T87T, D718D, and P727L) were detected. ...
    jjim.com/home/jjim/search.php?stype=nvweb&...&keyword=t87t
  • The muscle specific chloride channel ClC-1 and myotonia ...
    Worldwide over 80 mutations in CLCN1 have been described, but. only three were found in ... CLCN1 mRNA have been observed in muscle obtained from human dystrofia ...
    herkules.oulu.fi/isbn9789514286926/isbn9789514286926.pdf
  • Lin, MJ (Min-Jon)
    Lin, MJ (Min-Jon) :: The effect of L-arginine on slow motility of ... This indicates that P727L polymorphism causes loss of sensitivity of CLCN1 to the DEA/NO treatment, which ...
    lib.bioinfo.pl/auid:2467826
  • Spectrum of CLCN1 mutations in patients with myotonia ...
    At least 50 different CLCN1 mutations have been described worldwide, ... In total, eight different mutations and three polymorphisms (T87T, D718D, and P727L) were detected. ...
    www.medscape.com/medline/abstract/11840191?prt=true
  • Myotonia congenita in pregnancy.
    BioInfoBank Library :: Myotonia congenita in pregnancy. Plasma factor IX levels and oral contraception. Herpesvirus hominis infection of the female genital tract. ...
    lib.bioinfo.pl/pmid:5785682

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 3

Edit history
 

Gene search

"GENE" or "GENE A123C":

Log in