NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala) AND Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria)

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2010)

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:
RCV000001040.3

Allele description [Variation Report for NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala)]

NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala)

Gene:
SUCLG1:succinate-CoA ligase alpha subunit [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p11.2
Genomic location:
Preferred name:
NM_003849.3(SUCLG1):c.254G>C (p.Gly85Ala)
HGVS:
  • NC_000002.12:g.84443348C>G
  • NG_016755.1:g.21115G>C
  • NM_003849.3:c.254G>C
  • NP_003840.2:p.Gly85Ala
  • NC_000002.11:g.84670472C>G
  • P53597:p.Gly85Ala
Protein change:
G72A; GLY72ALA
Links:
UniProtKB: P53597#VAR_065157; OMIM: 611224.0002; dbSNP: rs267607097
NCBI 1000 Genomes Browser:
rs267607097
Molecular consequence:
  • NM_003849.3:c.254G>C - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 9 (encephalomyopathic with methylmalonic aciduria) (MTDPS9)
Identifiers:
MedGen: C3151476; Orphanet: 17; OMIM: 245400

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000021190OMIMno assertion criteria providedPathogenic
(Feb 1, 2010)
germlineliterature only

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

A novel missense mutation in SUCLG1 associated with mitochondrial DNA depletion, encephalomyopathic form, with methylmalonic aciduria.

Ostergaard E, Schwartz M, Batbayli M, Christensen E, Hjalmarson O, Kollberg G, Holme E.

Eur J Pediatr. 2010 Feb;169(2):201-5. doi: 10.1007/s00431-009-1007-z. Epub 2009 Jun 14.

PubMed [citation]
PMID:
19526370

Details of each submission

From OMIM, SCV000021190.2

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a Swedish patient with mitochondrial DNA depletion syndrome-9, manifest as encephalomyopathy with methylmalonic aciduria (MTDPS9; 245400), Ostergaard et al. (2010) identified a homozygous 215G-C transversion in exon 3 of the SUCLG1 gene, resulting in a gly72-to-ala (G72A) substitution. Each unaffected parent was heterozygous for the mutation, which was not found in 72 controls. The patient presented at age 6 months with failure to thrive, severe axial hypotonia, and lactic acidosis. He showed delayed psychomotor development and died just before age 3 years from metabolic acidosis following a gastrointestinal infection. Western blot analysis showed a severely decreased amount of SUCLG1 in patient fibroblasts. Muscle studies showed moderate mtDNA depletion.

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

Last Updated: Mar 30, 2019

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