LMNA L15P - GET-Evidence

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

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(LMNA Leu15Pro)

Short summary


Variant evidence
Computational -
Functional -
Case/Control -
Familial -
Clinical importance
Severity -
Treatability -
Penetrance -


Insufficiently evaluated not reviewed

(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

  • C @ chr1:156105028: 20.3% (2188/10758) in EVS
  • C @ chr1:154371651: 22.7% (29/128) in GET-Evidence
  • Frequency shown in summary reports: 20.3% (2188/10758)



hu0E64A1 - CGI sample GS01173-DNA_B02 from PGP sample 94378523
hom C @ chr1:156105028



hu3CAB43 - CGI sample GS01175-DNA_D03 from PGP sample 27486199
het C @ chr1:156105028


hu4CA5B9 - CGI sample GS01669-DNA_B03 from PGP sample 14427241
hom C @ chr1:156105028


hu604D39 - CGI sample GS00253-DNA_B02_200_37
het C @ chr1:156105028


hu8229AE - CGI sample GS01173-DNA_A07 from PGP sample 96240009
het C @ chr1:156105028



huAE4A11 - CGI sample GS01669-DNA_F02 from PGP sample 40767107
het C @ chr1:156105028


GS07357 - var-GS07357-1100-36-ASM
het C @ chr1:154371652


GS12004 - var-GS12004-1100-36-ASM
het C @ chr1:154371652


GS18501 - var-GS18501-1100-36-ASM
het C @ chr1:154371652


GS18504 - var-GS18504-1100-36-ASM
hom C @ chr1:154371652


GS18505 - var-GS18505-1100-36-ASM
het C @ chr1:154371652


GS18508 - var-GS18508-1100-36-ASM
het C @ chr1:154371652


GS18517 - var-GS18517-1100-36-ASM
het C @ chr1:154371652


GS19017 - var-GS19017-1100-36-ASM
het C @ chr1:154371652


GS19020 - var-GS19020-1100-36-ASM
het C @ chr1:154371652


GS19025 - var-GS19025-1100-36-ASM
het C @ chr1:154371652


GS19129 - var-GS19129-1100-36-ASM
hom C @ chr1:154371652


GS19238 - var-GS19238-1100-36-ASM
hom C @ chr1:154371652


GS19239 - var-GS19239-1100-36-ASM
hom C @ chr1:154371652


GS19240 - var-GS19240-1100-36-ASM
hom C @ chr1:154371652


GS19648 - var-GS19648-1100-36-ASM
hom C @ chr1:154371652


GS19701 - var-GS19701-1100-36-ASM
het C @ chr1:154371652


GS19703 - var-GS19703-1100-36-ASM
het C @ chr1:154371652


GS19704 - var-GS19704-1100-36-ASM
het C @ chr1:154371652


GS19834 - var-GS19834-1100-36-ASM
het C @ chr1:154371652


GS21767 - var-GS21767-1100-36-ASM
het C @ chr1:154371652


Other external references

  • rs538089
  • GeneTests records for the LMNA gene
    Dilated Cardiomyopathy
    Limb-Girdle Muscular Dystrophies, Autosomal Dominant
    Atypical Werner Syndrome
    Charcot-Marie-Tooth Neuropathy Type 2
    Charcot-Marie-Tooth Neuropathy Type 2B1
    Dilated Cardiomyopathy with Quadriceps Myopathy
    Emery-Dreifuss Muscular Dystrophy
    Emery-Dreifuss Muscular Dystrophy, Autosomal
    Emery-Dreifuss Muscular Dystrophy, Autosomal Dominant
    Emery-Dreifuss Muscular Dystrophy, Autosomal Recessive
    Familial Partial Lipodystrophy, Dunnigan Type
    Hutchinson-Gilford Progeria
    Lethal Tight Skin Contracture Syndrome
    Lipoatrophy with Diabetes, Hepatic Steatosis, Hypertrophic Cardi
    LMNA-Related Dilated Cardiomyopathy
    Mandibuloacral Dysplasia
    Progeroid Laminopathies

Other in silico analyses

  • NBLOSUM100 score = 7
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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