NDUFV1 T423M - GET-Evidence

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

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(NDUFV1 Thr423Met)

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

  • GeneTests records for the NDUFV1 gene
    Leigh Syndrome (nuclear DNA mutation)
    Mitochondrial Respiratory Chain Complex I Deficiency (nuclear ge
  • Score: 0.871 (probably damaging)
    Web search results (30 hits -- see all)
  • Mitochondrial complex I mutations in Caenorhabditis elegans ...
    Missense mutations in the human NDUFV1 gene, which encodes the 51 kDa active ... mutations exactly mimic the disease-causing NDUFV1 A341V and T423M mutations. ...
  • PROTEIN BIOSYNTHESIS '99 Human Mitochondrial Complex I in ...
    NDUFV1 and 2, NDUFS1–3, and NDUFS7 and 8, would be predicted to carry out essential ... NDUFV1 (R59X, T423M) M/7. Vomiting, strabismus, hypotonia Progressive, myoclonic. epilepsy ...
  • Inherited complex I deficiency is associated with faster ...
    ... and the other with a R59X/T423M mutation in the NDUFV1 subunit. ... moderately reduced CI activity in NDUFV1 cells was associated with an increase in F and normal Nc, suggesting ...
  • Isolated complex I deficiency in children: Clinical ...
    and T423M in two brothers (19 and 20) suffering. from a progressive unspecified ... subunit and R59X and T423M in. NDUFV1 subunit), the brothers expressed ...
  • Mutational analysis of Mitochondrial Complex 1
    NDUFV1. L53P. This is the first residue in an α- helix, the sidechain of leucine makes ... T423M. The threonine forms a hydrogen bond at the end of a α- helix for local stability, ...
  • OMIM 252010 - Complesso I mitocondriale, carenza
    ... di mutazioni nei geni codificati dal nucleo, includendo NDUFV1 ... mutazioni nel gene NDUFV1: una doppia mutazione (R59X, T423M; vedere 161015.0001) e una singola sostituzione ...
  • Werner J.H. Koopman
    two FP subunits (encoded by the NDUFV1 and NDUFV2 genes in humans), five IP ... in the NDUFV1 (R59X/T423M; 26), NDUFS1 (R557X/D618N; Manuscript in ...
  • Mitochondrial Respiratory Chain Diseases and Mutations in ...
    NDUFV1. C175T. R59X. Leukodystrophy/myoclonic epilepsy. 37. C1022T. T423M ... (U65579.1; nt+1 @ initiator Met); NDUFV1 (AF053070.1; nt+1 @ initiator Met); SCO2 ...
  • NDUFS4
    genes: A341V, R59X and T423M in the NDUFVI gene (22); V122M in the NDUFS7 gene (23); P79L and R102H in the ... were found in the coding sequence for the NDUFV1 gene in all ...
  • Neurospora Strains Harboring Mitochondrial Disease-Associated ...
    ... mutation and a compound heterozygous T423M and R59X mutation) (SCHUELKE et al. ... point mutations of the nuclear NDUFV1 and NDUFS1 genes in mitochondrial complex I deficiency. ...

Other in silico analyses

  • NBLOSUM100 score = 2
  • GET-Evidence autoscore = 5

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Gene search

"GENE" or "GENE A123C":

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