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NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser) AND Mitochondrial complex I deficiency, nuclear type 1

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jul 21, 2019
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV001332551.1

Allele description [Variation Report for NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)]

NM_005006.7(NDUFS1):c.1624C>T (p.Pro542Ser)

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.1624C>T (p.Pro542Ser)
HGVS:
  • NC_000002.12:g.206130172G>A
  • NG_009248.1:g.34292C>T
  • NM_001199981.2:c.1516C>T
  • NM_001199982.2:c.1291C>T
  • NM_001199983.2:c.1453C>T
  • NM_001199984.2:c.1666C>T
  • NM_005006.5:c.1624C>T
  • NM_005006.7:c.1624C>TMANE SELECT
  • NP_001186910.1:p.Pro506Ser
  • NP_001186911.1:p.Pro431Ser
  • NP_001186912.1:p.Pro485Ser
  • NP_001186913.1:p.Pro556Ser
  • NP_004997.4:p.Pro542Ser
  • NC_000002.11:g.206994896G>A
  • NM_005006.6:c.1624C>T
Protein change:
P431S
Links:
dbSNP: rs762228459
NCBI 1000 Genomes Browser:
rs762228459
Molecular consequence:
  • NM_001199981.2:c.1516C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199982.2:c.1291C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199983.2:c.1453C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_001199984.2:c.1666C>T - missense variant - [Sequence Ontology: SO:0001583]
  • NM_005006.7:c.1624C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex I deficiency, nuclear type 1
Synonyms:
NADH-COENZYME Q REDUCTASE DEFICIENCY; MITOCHONDRIAL NADH DEHYDROGENASE COMPONENT OF COMPLEX I, DEFICIENCY OF
Identifiers:
MONDO: MONDO:0100224; MedGen: CN257533; OMIM: 252010

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV001524913Baylor Genetics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Jul 21, 2019) 		unknownclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownyesnot providednot providednot providednot providednot providedclinical testing

Citations

PubMed

Nothing to display

Details of each submission

From Baylor Genetics, SCV001524913.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)

Description

This variant was determined to be of uncertain significance according to ACMG Guidelines, 2015 [PMID:25741868].

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

Last Updated: Sep 1, 2024