NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Clinical significance:Uncertain significance (Last evaluated: Jun 22, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000667875.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)]

NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)

Gene:
LRPPRC:leucine rich pentatricopeptide repeat containing [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p21
Genomic location:
Preferred name:
NM_133259.4(LRPPRC):c.1253A>C (p.Asn418Thr)
HGVS:
  • NC_000002.12:g.43973803T>G
  • NG_008247.1:g.27203A>C
  • NM_133259.4:c.1253A>CMANE SELECT
  • NP_573566.2:p.Asn418Thr
  • NC_000002.11:g.44200942T>G
  • NM_133259.3:c.1253A>C
Protein change:
N418T
Links:
dbSNP: rs373908553
NCBI 1000 Genomes Browser:
rs373908553
Molecular consequence:
  • NM_133259.4:c.1253A>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type (MC4DN5)
Synonyms:
Leigh syndrome, French Canadian type; Cox deficiency, French Canadian type; Cox deficiency, Saguenay Lac saint Jean type; See all synonyms [MedGen]
Identifiers:
MONDO: MONDO:0009069; MedGen: C1857355; Orphanet: 70472; OMIM: 220111

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000792387Counsylcriteria provided, single submitter
Uncertain significance
(Jun 22, 2017)
unknownclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

A Comprehensive Genomic Analysis Reveals the Genetic Landscape of Mitochondrial Respiratory Chain Complex Deficiencies.

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, Tamaru S, Borna NN, Banshoya K, Aigaki T, Sato-Miyata Y, Ohnuma K, Suzuki T, Nagao A, Maehata H, Matsuda F, et al.

PLoS Genet. 2016 Jan;12(1):e1005679. doi: 10.1371/journal.pgen.1005679.

PubMed [citation]
PMID:
26741492
PMCID:
PMC4704781

Details of each submission

From Counsyl, SCV000792387.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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