NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly) AND Congenital lactic acidosis, Saguenay-Lac-Saint-Jean type

Clinical significance:Benign (Last evaluated: Apr 28, 2017)

Review status:1 star out of maximum of 4 stars

criteria provided, single submitter

Based on:
1 submission [Details]
Record status:
current
Accession:
RCV001137661.1

Allele description [Variation Report for NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly)]

NM_133259.4(LRPPRC):c.1529C>G (p.Ala510Gly)

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.1529C>G (p.Ala510Gly)
Other names:
p.A510G:GCT>GGT
HGVS:
  • NC_000002.12:g.43960594G>C
  • NG_008247.1:g.40412C>G
  • NM_133259.4:c.1529C>GMANE SELECT
  • NP_573566.2:p.Ala510Gly
  • NC_000002.11:g.44187733G>C
  • NM_133259.3:c.1529C>G
Protein change:
A510G
Links:
dbSNP: rs115693730
NCBI 1000 Genomes Browser:
rs115693730
Molecular consequence:
  • NM_133259.4:c.1529C>G - 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

Recent activity

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

See more...

Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV001297627Illumina Clinical Services Laboratory,Illuminacriteria provided, single submitter
Benign
(Apr 28, 2017)
germlineclinical testing

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

Citation Link

Summary from all submissions

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

Citations

PubMed

Response to immunotherapy in a patient with adult onset Leigh syndrome and T9176C mtDNA mutation.

Chuquilin M, Govindarajan R, Peck D, Font-Montgomery E.

Mol Genet Metab Rep. 2016 Sep;8:28-32. doi: 10.1016/j.ymgmr.2016.06.004.

PubMed [citation]
PMID:
27408822
PMCID:
PMC4932611

Details of each submission

From Illumina Clinical Services Laboratory,Illumina, SCV001297627.1

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

Description

This variant was observed as part of a predisposition screen in an ostensibly healthy population. A literature search was performed for the gene, cDNA change, and amino acid change (where applicable). Publications were found based on this search. The evidence from the literature, in combination with allele frequency data from public databases where available, was sufficient to rule this variant out of causing disease. Therefore, this variant is classified as benign.

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

Last Updated: Jun 14, 2021

Support Center