NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter) AND Mitochondrial complex 1 deficiency, nuclear type 5

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Feb 27, 2022
Review status:: 2 stars out of maximum of 4 stars
criteria provided, multiple submitters, no conflicts

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:: RCV002493399.2

Allele description [Variation Report for NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)]

NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)

Gene:

NDUFS1:NADH:ubiquinone oxidoreductase core subunit S1 [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

2q33.3

Genomic location:

Preferred name:

NM_005006.7(NDUFS1):c.64C>T (p.Arg22Ter)

HGVS:

NC_000002.12:g.206152508G>A
NG_009248.1:g.11956C>T
NM_001199981.2:c.64C>T
NM_001199982.2:c.5+1110C>T
NM_001199983.2:c.-19+1110C>T
NM_001199984.2:c.106C>T
NM_005006.7:c.64C>TMANE SELECT
NP_001186910.1:p.Arg22Ter
NP_001186913.1:p.Arg36Ter
NP_004997.4:p.Arg22Ter
NC_000002.11:g.207017232G>A
NM_005006.6:c.64C>T

Protein change:

R22*

Links:

dbSNP: rs750971390

NCBI 1000 Genomes Browser:

rs750971390

Molecular consequence:

NM_001199982.2:c.5+1110C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001199983.2:c.-19+1110C>T - intron variant - [Sequence Ontology: SO:0001627]
NM_001199981.2:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_001199984.2:c.106C>T - nonsense - [Sequence Ontology: SO:0001587]
NM_005006.7:c.64C>T - nonsense - [Sequence Ontology: SO:0001587]

Condition(s)

Name:: Mitochondrial complex 1 deficiency, nuclear type 5
Synonyms:: MITOCHONDRIAL COMPLEX I DEFICIENCY, NUCLEAR TYPE 5
Identifiers:: MONDO: MONDO:0032610; MedGen: C4748754; OMIM: 618226

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002808700	Fulgent Genetics, Fulgent Genetics	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic (Feb 27, 2022)	unknown	clinical testing	PubMed (1) [See all records that cite this PMID]
SCV005440568	Juno Genomics, Hangzhou Juno Genomics, Inc	criteria provided, single submitter (ACMG Guidelines, 2015)	Pathogenic	germline	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002808700

Fulgent Genetics, Fulgent Genetics

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic
(Feb 27, 2022)

unknown

clinical testing

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

SCV005440568

Juno Genomics, Hangzhou Juno Genomics, Inc

criteria provided, single submitter

(ACMG Guidelines, 2015)

Pathogenic

germline

clinical testing

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	unknown	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing
not provided	germline	yes	not provided	not provided	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee.

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Fulgent Genetics, Fulgent Genetics, SCV002808700.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

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

From Juno Genomics, Hangzhou Juno Genomics, Inc, SCV005440568.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (1)

Description

PM2_Supporting+PVS1+PM3_Supporting+PP4

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

Last Updated: May 16, 2025

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