NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Clinical significance:Likely benign (Last evaluated: Apr 24, 2020)

Review status:(0/4) 0 stars out of maximum of 4 stars

no assertion criteria provided

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001274199.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr)]

NM_133259.4(LRPPRC):c.1841T>C (p.Met614Thr)

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.1841T>C (p.Met614Thr)
HGVS:
  • NC_000002.12:g.43948413A>G
  • NG_008247.1:g.52593T>C
  • NM_133259.4:c.1841T>CMANE SELECT
  • NP_573566.2:p.Met614Thr
  • NC_000002.11:g.44175552A>G
  • NM_133259.3:c.1841T>C
Protein change:
M614T
Links:
dbSNP: rs374400665
NCBI 1000 Genomes Browser:
rs374400665
Molecular consequence:
  • NM_133259.4:c.1841T>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
SCV001458046Natera, Inc.no assertion criteria providedLikely benign
(Apr 24, 2020)
germlineclinical testing

Summary from all submissions

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

Details of each submission

From Natera, Inc., SCV001458046.1

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

Last Updated: Sep 24, 2021

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