NM_004168.3(SDHA):c.1571C>T (p.Ala524Val) AND Mitochondrial complex II deficiency

Clinical significance:Pathogenic (Last evaluated: Feb 1, 2000)

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:
RCV000009282.4

Allele description [Variation Report for NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)]

NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)

Gene:
SDHA:succinate dehydrogenase complex flavoprotein subunit A [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
5p15.33
Genomic location:
Preferred name:
NM_004168.3(SDHA):c.1571C>T (p.Ala524Val)
HGVS:
  • NC_000005.10:g.251011C>T
  • NG_012339.1:g.37771C>T
  • NM_001330758.1:c.1552-3382C>T
  • NM_004168.2:c.1571C>T
  • NM_004168.3:c.1571C>T
  • NP_004159.2:p.Ala524Val
  • NC_000005.9:g.251126C>T
  • P31040:p.Ala524Val
Protein change:
A524V; ALA524VAL
Links:
UniProtKB: P31040#VAR_016878; OMIM: 600857.0002; dbSNP: rs137852767
NCBI 1000 Genomes Browser:
rs137852767
Molecular consequence:
  • NM_001330758.1:c.1552-3382C>T - intron variant - [Sequence Ontology: SO:0001627]
  • NM_004168.3:c.1571C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial complex II deficiency
Identifiers:
MedGen: C1855008; Orphanet: 3208; OMIM: 252011

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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000029500OMIMno assertion criteria providedPathogenic
(Feb 1, 2000)
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

Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome.

Parfait B, Chretien D, Rötig A, Marsac C, Munnich A, Rustin P.

Hum Genet. 2000 Feb;106(2):236-43.

PubMed [citation]
PMID:
10746566

Details of each submission

From OMIM, SCV000029500.3

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

Description

In a girl complex II deficiency (252011) presenting as Leigh syndrome (256000), Parfait et al. (2000) identified compound heterozygosity for 2 mutations in the SDHA gene: a C-to-T transition, resulting in an ala524-to-val (A524V) substitution, and an A-to-C transversion, resulting in a met1-to-leu (M1L; 600857.0003) substitution. The patient was the first child of unrelated, healthy parents and was born at term after a normal pregnancy and delivery. She developed normally until 9 months of age, when psychomotor delay was noted. She could not sit unaided before 16 months of age, when truncal ataxia and cerebellar syndrome were noticed. There was mild hyperlactatemia, and cerebrospinal fluid lactate was mildly elevated. Magnetic resonance imaging showed necrotic lesions in the basal ganglia compatible with the diagnosis of Leigh syndrome.

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

Last Updated: Apr 17, 2019

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