NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Clinical significance:Uncertain significance (Last evaluated: Oct 31, 2018)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV000764413.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)]

NM_133259.4(LRPPRC):c.1678A>T (p.Ile560Leu)

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.1678A>T (p.Ile560Leu)
HGVS:
  • NC_000002.12:g.43949659T>A
  • NG_008247.1:g.51347A>T
  • NM_133259.4:c.1678A>TMANE SELECT
  • NP_573566.2:p.Ile560Leu
  • NC_000002.11:g.44176798T>A
  • NM_133259.3:c.1678A>T
Protein change:
I560L
Links:
dbSNP: rs144826521
NCBI 1000 Genomes Browser:
rs144826521
Molecular consequence:
  • NM_133259.4:c.1678A>T - 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
SCV000895470Fulgent Genetics,Fulgent Geneticscriteria provided, single submitter
Uncertain significance
(Oct 31, 2018)
unknownclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedclinical 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, SCV000895470.1

#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 6, 2021

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