SDHA Y629F - GET-Evidence

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

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(SDHA Tyr629Phe)

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

  • T @ chr5:254599: 7.7% (795/10354) in EVS
  • T @ chr5:307598: 11.0% (9/82) in GET-Evidence
  • Frequency shown in summary reports: 7.7% (795/10354)





huE80E3D - CGI sample GS00253-DNA_D01_200_37
het T @ chr5:254599


GS18502 - var-GS18502-1100-36-ASM
het T @ chr5:307599


GS18505 - var-GS18505-1100-36-ASM
hom T @ chr5:307599


GS18508 - var-GS18508-1100-36-ASM
het T @ chr5:307599


GS19649 - var-GS19649-1100-36-ASM
het T @ chr5:307599


GS19700 - var-GS19700-1100-36-ASM
hom T @ chr5:307599


Other external references

  • rs34482117
  • rs6960
  • GeneTests records for the SDHA gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex II Deficiency
    Mitochondrial Respiratory Chain Complex II Deficiency, SDHA-Rela
  • Score: 0.001 (benign)
    Web search results (5 hits -- see all)
  • BioMed Central | Full text | Sequence variation in human ...
    High nucleotide diversity in the human SDHA gene, which has a role in cellular oxygen ... Sequence analysis uncovered two common SDHA missense variants and refuted the previous ...
  • BMC Biology
    We also sequenced the SDHA gene (2.8 kb) in 18 chimpanzees. ... that the Y629F and V657I variants originate from two dis- tinct genetic loci because ...

Other in silico analyses

  • NBLOSUM100 score = –4
  • GET-Evidence autoscore = 2

Edit history

Gene search

"GENE" or "GENE A123C":

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