PLN L39X - GET-Evidence

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

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(PLN Leu39Stop)

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

    Web search results (4 hits -- see all)
  • Phospholamban R14 Deletion Results in Late-Onset, Mild ...
    We identified 1 family with a deletion of arginine 14 in the PLN. ... In the homozygous state, the L39X mutation was associated with early-onset, lethal, DCM. ...
  • OMIM: 172405
    In 2 unrelated families with CMD1P (609909), Haghighi et al. (2003) identified a truncating mutation in the PLN gene, leu39 to ter (L39X; 172405.0002) ...
  • <!DOCTYPE xhtml PUBLIC "-/W3C/DTD XHTML 1.0 Transitional/EN ...
    <!DOCTYPE xhtml PUBLIC "-//W3C//DTD XHTML 1.0 Transitional//EN" "http://www.w3. ...; Organization: Portland State University User-Agent: Thunderbird ...
  • Diversen - Muntsystemen.pd
    ... 35 4 R /Resources &lt;&lt; /Font &lt;&lt; /F1 3 5 R /F4 32 4 R &gt;&gt; /XObject ... 3 5 obj &lt;&lt; /Type /Font /Subtype /Type1 /BaseFont /Helvetica /FirstChar 0 ... - Muntsystemen.pd

Other in silico analyses

  • NBLOSUM100 score = 10
  • GET-Evidence autoscore = 6

Edit history

Gene search

"GENE" or "GENE A123C":

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