NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu) AND Mitochondrial complex II deficiency

Clinical significance:Pathogenic (Last evaluated: Sep 1, 2012)

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:
RCV000032786.5

Allele description [Variation Report for NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu)]

NM_004168.3(SDHA):c.1526C>T (p.Ser509Leu)

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.1526C>T (p.Ser509Leu)
HGVS:
  • NC_000005.10:g.240451C>T
  • NG_012339.1:g.27211C>T
  • NM_004168.3:c.1526C>T
  • NP_004159.2:p.Ser509Leu
  • NC_000005.9:g.240566C>T
  • NM_004168.2:c.1526C>T
Protein change:
S509L; SER509LEU
Links:
OMIM: 600857.0007; dbSNP: rs397514541
NCBI 1000 Genomes Browser:
rs397514541
Molecular consequence:
  • NM_004168.3:c.1526C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

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

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
SCV000056550OMIMno assertion criteria providedPathogenic
(Sep 1, 2012)
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

Recessive germline SDHA and SDHB mutations causing leukodystrophy and isolated mitochondrial complex II deficiency.

Alston CL, Davison JE, Meloni F, van der Westhuizen FH, He L, Hornig-Do HT, Peet AC, Gissen P, Goffrini P, Ferrero I, Wassmer E, McFarland R, Taylor RW.

J Med Genet. 2012 Sep;49(9):569-77. doi: 10.1136/jmedgenet-2012-101146.

PubMed [citation]
PMID:
22972948
PMCID:
PMC3500770

Details of each submission

From OMIM, SCV000056550.3

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

Description

For discussion of the ser509-to-leu (S509L) mutation in the SDHA gene that was found in compound heterozygous state in a patient with mitochondrial complex II deficiency (252011) by Alston et al. (2012), see 600857.0006.

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

Last Updated: Mar 30, 2019

Support Center