CACNA1C P1820L - GET-Evidence

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

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Curation:
Currentness:

CACNA1C P1820L

(CACNA1C Pro1820Leu)


Short summary

 

Variant evidence
Computational 2

PolyPhen: Benign, score 0.01
SIFT: Tolerated 0.98
GVGD: GV 353.86; GD 0.00; Class C0
Variant Effect Predictor (Ensembl ):
SIFT=tolerated(0.2);
PolyPhen=unknown(0)
Mutation Tasting Prediction: Polymorphism, P value: 0. 999732; protein features (might be) affected (aa 1525-2221 TOPO_DOM Cytoplasmic (Potential) 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

  • None available.

Publications
 

Genomes
 

hu728FFF - PGP11 (hu728FFF) build 36, substitution variants
het T @ chr12:2661391

 

Other external references
 

    Web search results (5 hits -- see all)
  • Full database search - Zhejiang University-Adinovo Center for ...
    The patient also had 2 SNPs in CACNA1C: P1820L and V1821M. ... CACNA1C DB-ID: Database IDentifier; When available, links to OMIM ID's are provided. Type: Type of variant at ...
    china-hvp.org/LOVD/variants.php?select_db=CACNA1C&.../DNA=c.
  • Loss-of-Function Mutations in the Cardiac Calcium Channel ...
    CACNA1C was transfected as either (EYFP)N1C,77 or pcDNA3-CACNA1C. ... Patient 2 also had 2 polymorphisms in CACNA1C, P1820L and V1821M, which were found in 31 ...
    intl-circ.ahajournals.org/cgi/content/full/115/4/442
  • OMIM: 114205
    CACNA1C with the alternate 16-amino acid N-terminal segment was ... The proband also carried 2 polymorphisms in CACNA1C, P1820L and V1821M, which were found in 31 and 27 of 114 ...
    www.genome.jp/dbget-bin/www_bget?omim+114205
  • 6th. Virtual Congress of Cardiology
    The proband also carried 2 polymorphisms in CACNA1C, P1820L and V1821M, which were found in 31 and 27 of 114 healthy controls, respectively. ...
    www.fac.org.ar/6cvc/llave/c043/rieraa.php

Other in silico analyses
 

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 4

Edit history
 

Gene search

"GENE" or "GENE A123C":

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