NM_003850.3(SUCLA2):c.352G>A (p.Gly118Arg) AND Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Mar 1, 2007
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of clinical impact:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Somatic classification of oncogenicity:: None
Review status:: (0/4) 0 stars out of maximum of 4 stars
no assertion criteria provided

Record status:: current
Accession:: RCV000006343.3

Allele description [Variation Report for NM_003850.3(SUCLA2):c.352G>A (p.Gly118Arg)]

NM_003850.3(SUCLA2):c.352G>A (p.Gly118Arg)

Gene:

SUCLA2:succinate-CoA ligase ADP-forming subunit beta [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q14.2

Genomic location:

Preferred name:

NM_003850.3(SUCLA2):c.352G>A (p.Gly118Arg)

HGVS:

NC_000013.11:g.47988901C>T
NG_008241.1:g.17427G>A
NM_003850.3:c.352G>AMANE SELECT
NP_003841.1:p.Gly118Arg
NC_000013.10:g.48563036C>T
Q9P2R7:p.Gly118Arg

Protein change:

G118R; GLY118ARG

Links:

UniProtKB: Q9P2R7#VAR_046215; OMIM: 603921.0003; dbSNP: rs121908537

NCBI 1000 Genomes Browser:

rs121908537

Molecular consequence:

NM_003850.3:c.352G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Mitochondrial DNA depletion syndrome, encephalomyopathic form with methylmalonic aciduria (MTDPS5)
Synonyms:: Encephalomyopathy; Mitochondrial encephalomyopathy aminoacidopathy; MITOCHONDRIAL DNA DEPLETION SYNDROME, ENCEPHALOMYOPATHIC FORM, WITH OR WITHOUT METHYLMALONIC ACIDURIA, AUTOSOMAL RECESSIVE, SUCLA2-RELATED; See all synonyms [MedGen]
Identifiers:: MONDO: MONDO:0012791; MedGen: C2749864; Orphanet: 1933; OMIM: 612073

Recent activity

Clear Turn Off Turn On

Your browsing activity is empty.

Activity recording is turned off.

Turn recording back on

Help

Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000026525	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 2007)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000026525

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 2007)

germline

literature only

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

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

SUCLA2 mutations are associated with mild methylmalonic aciduria, Leigh-like encephalomyopathy, dystonia and deafness.

Carrozzo R, Dionisi-Vici C, Steuerwald U, Lucioli S, Deodato F, Di Giandomenico S, Bertini E, Franke B, Kluijtmans LA, Meschini MC, Rizzo C, Piemonte F, Rodenburg R, Santer R, Santorelli FM, van Rooij A, Vermunt-de Koning D, Morava E, Wevers RA.

Brain. 2007 Mar;130(Pt 3):862-74. Epub 2007 Feb 14.

PubMed [citation]

PMID:: 17301081

Details of each submission

From OMIM, SCV000026525.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

In 2 unrelated patients with encephalomyopathic mitochondrial DNA depletion with methylmalonic aciduria (MTDPS5; 612073), Carrozzo et al. (2007) identified a homozygous 850C-T transition in exon 7 of the SUCLA2 gene, resulting in a gly118-to-arg (G118R) substitution. Both patients originated from southern Italy. A distantly affected relative of 1 of the patients was found to be compound heterozygous for G118R and R284C (603921.0004).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

Last Updated: Jun 29, 2024

ClinVar

Relating variation to medicine