NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln) AND Hypomyelination, global cerebral

Clinical significance:Pathogenic (Last evaluated: Aug 1, 2016)

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:
RCV000239515.1

Allele description [Variation Report for NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln)]

NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln)

Gene:
SLC25A12:solute carrier family 25 member 12 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2q31.1
Genomic location:
Preferred name:
NM_003705.4(SLC25A12):c.1058G>A (p.Arg353Gln)
HGVS:
  • NC_000002.12:g.171813452C>T
  • NG_011781.1:g.85852G>A
  • NM_003705.4:c.1058G>A
  • NP_003696.2:p.Arg353Gln
  • NC_000002.11:g.172669962C>T
  • NR_047549.1:n.1034G>A
  • O75746:p.Arg353Gln
Protein change:
R353Q; ARG353GLN
Links:
UniProtKB: O75746#VAR_071976; OMIM: 603667.0002; dbSNP: rs886037851
NCBI 1000 Genomes Browser:
rs886037851
Molecular consequence:
  • NM_003705.4:c.1058G>A - missense variant - [Sequence Ontology: SO:0001583]
  • NR_047549.1:n.1034G>A - non-coding transcript variant - [Sequence Ontology: SO:0001619]

Condition(s)

Name:
Hypomyelination, global cerebral (EIEE39)
Synonyms:
EPILEPTIC ENCEPHALOPATHY, EARLY INFANTILE, 39
Identifiers:
MedGen: C2751855; OMIM: 612949

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
SCV000297935OMIMno assertion criteria providedPathogenic
(Aug 1, 2016)
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

Erratum to: AGC1 Deficiency Causes Infantile Epilepsy, Abnormal Myelination, and Reduced N-Acetylaspartate.

Falk MJ, Li D, Gai X, McCormick E, Place E, Lasorsa FM, Otieno FG, Hou C, Kim CE, Abdel-Magid N, Vazquez L, Mentch FD, Chiavacci R, Liang J, Liu X, Jiang H, Giannuzzi G, Marsh ED, Guo Y, Tian L, Palmieri F, Hakonarson H.

JIMD Rep. 2014;14:119. doi: 10.1007/8904_2014_314. Epub 2014 Jun 29. No abstract available.

PubMed [citation]
PMID:
24973975
PMCID:
PMC4213340

Details of each submission

From OMIM, SCV000297935.1

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

Description

In 2 sibs, born of consanguineous Indian parents, with early infantile epileptic encephalopathy-39 (EIEE39; 612949), Falk et al. (2014) identified a homozygous c.1058G-A transition in the SLC25A12 gene, resulting in an arg353-to-gln (R353Q) substitution at a highly conserved residue thought to participate in closing and opening the carrier on the matrix side. The mutation, which was found by whole-exome sequencing and confirmed by Sanger sequencing, segregated with the disorder in the family and was not found in the 1000 Genomes Project or Exome Variant Server databases, or in 1,200 in-house control exomes. Expression of the mutation in E. coli showed that it resulted in decreased aspartate/glutamate exchange (about 15% activity compared to wildtype). Mitochondrial localization of the mutant protein was normal.

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

Last Updated: Mar 30, 2019

Support Center