NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Clinical significance:Likely pathogenic (Last evaluated: Dec 13, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000671441.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)]

NM_133259.4(LRPPRC):c.589C>T (p.Arg197Ter)

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.589C>T (p.Arg197Ter)
HGVS:
  • NC_000002.12:g.43977157G>A
  • NG_008247.1:g.23849C>T
  • NM_133259.4:c.589C>TMANE SELECT
  • NP_573566.2:p.Arg197Ter
  • NC_000002.11:g.44204296G>A
  • NM_133259.3:c.589C>T
Protein change:
R197*
Links:
dbSNP: rs989113962
NCBI 1000 Genomes Browser:
rs989113962
Molecular consequence:
  • NM_133259.4:c.589C>T - nonsense - [Sequence Ontology: SO:0001587]

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
SCV000796417Counsylcriteria provided, single submitter
Likely pathogenic
(Dec 13, 2017)
unknownclinical testing

Citation Link

Summary from all submissions

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

Details of each submission

From Counsyl, SCV000796417.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1unknownunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Oct 7, 2021

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