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NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro) AND Mitochondrial complex 1 deficiency, nuclear type 18

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Jun 1, 2009
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of clinical impact:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Somatic classification
of oncogenicity:
None
Review status:
(0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided
Record status:
current
Accession:
RCV000000451.3

Allele description [Variation Report for NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro)]

NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro)

Gene:
NDUFAF3:NADH:ubiquinone oxidoreductase complex assembly factor 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
3p21.31
Genomic location:
Preferred name:
NM_199069.2(NDUFAF3):c.365G>C (p.Arg122Pro)
HGVS:
  • NC_000003.12:g.49022903G>C
  • NG_012091.1:g.11540C>G
  • NG_016282.1:g.7429G>C
  • NG_033126.1:g.3169C>G
  • NM_199069.2:c.365G>CMANE SELECT
  • NM_199070.2:c.194G>C
  • NM_199073.2:c.194G>C
  • NM_199074.2:c.194G>C
  • NP_951032.1:p.Arg122Pro
  • NP_951033.1:p.Arg65Pro
  • NP_951047.1:p.Arg65Pro
  • NP_951056.1:p.Arg65Pro
  • NC_000003.11:g.49060336G>C
Protein change:
R122P; ARG122PRO
Links:
OMIM: 612911.0002; dbSNP: rs121918135
NCBI 1000 Genomes Browser:
rs121918135
Molecular consequence:
  • NM_199069.2:c.365G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199070.2:c.194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199073.2:c.194G>C - missense variant - [Sequence Ontology: SO:0001583]
  • NM_199074.2:c.194G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex 1 deficiency, nuclear type 18
Synonyms:
MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 18
Identifiers:
MONDO: MONDO:0032623; MedGen: C4748790; OMIM: 618240

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000020600OMIM
no assertion criteria provided
Pathogenic
(Jun 1, 2009) 		germlineliterature only

PubMed (1)
[See all records that cite this PMID]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

Mutations in NDUFAF3 (C3ORF60), encoding an NDUFAF4 (C6ORF66)-interacting complex I assembly protein, cause fatal neonatal mitochondrial disease.

Saada A, Vogel RO, Hoefs SJ, van den Brand MA, Wessels HJ, Willems PH, Venselaar H, Shaag A, Barghuti F, Reish O, Shohat M, Huynen MA, Smeitink JA, van den Heuvel LP, Nijtmans LG.

Am J Hum Genet. 2009 Jun;84(6):718-27. doi: 10.1016/j.ajhg.2009.04.020. Epub 2009 May 21.

PubMed [citation]
PMID:
19463981
PMCID:
PMC2694978

Details of each submission

From OMIM, SCV000020600.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a male infant with severe mitochondrial complex I deficiency nuclear type 18 (MC1DN18; 618240), Saada et al. (2009) identified a homozygous 365G-C transversion in the NDUFAF3 gene, resulting in an arg122-to-pro (R122P) substitution at the C-terminal end of the protein. The child was born of consanguineous Arab Muslim parents. At 3 weeks of age, he became hypoactive and sucked poorly. Physical examination revealed macrocephaly, a weak cry, wide anterior fontanel, and axial hypotonia. He had intermittent generalized tonic movements, and funduscopy showed pallor of the optic discs. At 3 months of age, there was no eye contact and marked axial hypotonia with brisk tendon reflexes. He died at age 4 months.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Apr 23, 2022