NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly) AND Mitochondrial complex 1 deficiency, nuclear type 17

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Apr 15, 2021
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:: RCV000412485.4

Allele description [Variation Report for NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly)]

NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly)

Gene:

NDUFAF6:NADH:ubiquinone oxidoreductase complex assembly factor 6 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

8q22.1

Genomic location:

Preferred name:

NM_152416.4(NDUFAF6):c.820A>G (p.Arg274Gly)

HGVS:

NC_000008.11:g.95052177A>G
NG_016647.2:g.161907A>G
NM_001330582.2:c.544A>G
NM_001354514.2:c.544A>G
NM_001354515.2:c.544A>G
NM_001354516.2:c.664A>G
NM_001354517.2:c.487A>G
NM_001354518.2:c.487A>G
NM_001354519.2:c.487A>G
NM_001354521.2:c.540+3619A>G
NM_001354522.2:c.364A>G
NM_001354524.2:c.364A>G
NM_001354525.2:c.364A>G
NM_001354527.2:c.364A>G
NM_001354528.2:c.364A>G
NM_001354529.2:c.364A>G
NM_001354530.2:c.364A>G
NM_001354531.2:c.364A>G
NM_001354532.2:c.364A>G
NM_001354533.2:c.364A>G
NM_001354534.2:c.483+3619A>G
NM_152416.4:c.820A>GMANE SELECT
NP_001317511.1:p.Arg182Gly
NP_001341443.1:p.Arg182Gly
NP_001341444.1:p.Arg182Gly
NP_001341445.1:p.Arg222Gly
NP_001341446.1:p.Arg163Gly
NP_001341447.1:p.Arg163Gly
NP_001341448.1:p.Arg163Gly
NP_001341451.1:p.Arg122Gly
NP_001341453.1:p.Arg122Gly
NP_001341454.1:p.Arg122Gly
NP_001341456.1:p.Arg122Gly
NP_001341457.1:p.Arg122Gly
NP_001341458.1:p.Arg122Gly
NP_001341459.1:p.Arg122Gly
NP_001341460.1:p.Arg122Gly
NP_001341461.1:p.Arg122Gly
NP_001341462.1:p.Arg122Gly
NP_689629.2:p.Arg274Gly
NC_000008.10:g.96064405A>G
NM_152416.3:c.820A>G
NR_148910.2:n.825A>G
NR_148911.2:n.959A>G
NR_148912.2:n.963A>G
NR_148915.2:n.964A>G

Protein change:

R122G; ARG274GLY

Links:

OMIM: 612392.0007; dbSNP: rs1057519086

NCBI 1000 Genomes Browser:

rs1057519086

Molecular consequence:

NM_001354521.2:c.540+3619A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001354534.2:c.483+3619A>G - intron variant - [Sequence Ontology: SO:0001627]
NM_001330582.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354514.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354515.2:c.544A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354516.2:c.664A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354517.2:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354518.2:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354519.2:c.487A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354522.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354524.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354525.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354527.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354528.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354529.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354530.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354531.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354532.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_001354533.2:c.364A>G - missense variant - [Sequence Ontology: SO:0001583]
NM_152416.4:c.820A>G - missense variant - [Sequence Ontology: SO:0001583]
NR_148910.2:n.825A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148911.2:n.959A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148912.2:n.963A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]
NR_148915.2:n.964A>G - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:: Mitochondrial complex 1 deficiency, nuclear type 17
Synonyms:: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 17
Identifiers:: MONDO: MONDO:0032622; MedGen: C4748786; OMIM: 618239

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490334	OMIM	no assertion criteria provided	Pathogenic (Apr 15, 2021)	germline	literature only	Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., and 23 others A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 12: e1005679, 2016. Note: Electronic Article.

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000490334

OMIM

no assertion criteria provided

Pathogenic
(Apr 15, 2021)

germline

literature only

Kohda, M., Tokuzawa, Y., Kishita, Y., Nyuzuki, H., Moriyama, Y., Mizuno, Y., Hirata, T., Yatsuka, Y., Yamashita-Sugahara, Y., Nakachi, Y., Kato, H., Okuda, A., and 23 others A comprehensive genomic analysis reveals the genetic landscape of mitochondrial respiratory chain complex deficiencies. PLoS Genet. 12: e1005679, 2016. Note: Electronic Article.

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Details of each submission

From OMIM, SCV000490334.3

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	not provided

Description

In a child (patient 330) with mitochondrial complex I deficiency nuclear type 17 (MC1DN17; 618239) manifesting as Leigh syndrome (see 256000), Kohda et al. (2016) identified a homozygous c.820A-G transition (c.820A-G, NM_152416) in exon 8 of the NDUFAF6 gene, resulting in an arg274-to-gly (R274G) substitution at a highly conserved residue. The mutation, which was found by high-throughput exome sequencing, segregated with the disorder in the family. The variant was filtered against the dbSNP (build 137), Exome Sequencing Project, and ExAC databases. The complex I deficiency in patient fibroblasts could be rescued by expression of wildtype NDUFAF6.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Mar 18, 2023

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