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NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu) AND Cardiomyopathy-hypotonia-lactic acidosis syndrome

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:
RCV000009720.6

Allele description [Variation Report for NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)]

NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)

Genes:
LOC130008523:ATAC-STARR-seq lymphoblastoid active region 6847 [Gene]
SLC25A3:solute carrier family 25 member 3 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
12q23.1
Genomic location:
Preferred name:
NM_005888.4(SLC25A3):c.215G>A (p.Gly72Glu)
HGVS:
  • NC_000012.12:g.98595490G>A
  • NG_011702.1:g.6866G>A
  • NM_002635.4:c.158-237G>AMANE SELECT
  • NM_005888.4:c.215G>A
  • NM_213611.3:c.158-237G>A
  • NP_005879.1:p.Gly72Glu
  • NC_000012.11:g.98989268G>A
  • Q00325:p.Gly72Glu
Protein change:
G72E; GLY72GLU
Links:
UniProtKB: Q00325#VAR_032850; OMIM: 600370.0001; dbSNP: rs104894375
NCBI 1000 Genomes Browser:
rs104894375
Molecular consequence:
  • NM_002635.4:c.158-237G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_213611.3:c.158-237G>A - intron variant - [Sequence Ontology: SO:0001627]
  • NM_005888.4:c.215G>A - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Cardiomyopathy-hypotonia-lactic acidosis syndrome (MPCD)
Synonyms:
Mitochondrial phosphate carrier deficiency
Identifiers:
MONDO: MONDO:0012557; MedGen: C1835845; Orphanet: 91130; OMIM: 610773

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000029938OMIM
no assertion criteria provided
Pathogenic
(Mar 1, 2007) 		germlineliterature only

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

Help

Summary from all submissions

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

Citations

PubMed

Mitochondrial phosphate-carrier deficiency: a novel disorder of oxidative phosphorylation.

Mayr JA, Merkel O, Kohlwein SD, Gebhardt BR, Böhles H, Fötschl U, Koch J, Jaksch M, Lochmüller H, Horváth R, Freisinger P, Sperl W.

Am J Hum Genet. 2007 Mar;80(3):478-84. Epub 2007 Jan 10.

PubMed [citation]
PMID:
17273968
PMCID:
PMC1821108

Details of each submission

From OMIM, SCV000029938.3

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

Description

In 2 sibs with mitochondrial phosphate carrier deficiency (MPCD; 610773), Mayr et al. (2007) identified homozygosity for a c.215G-A transition in exon 3A of the SLC25A3 gene, resulting in a gly72-to-glu (G72E) amino acid substitution. Functional investigation of patient mitochondria showed a deficiency of ATP synthetase in muscle but not in fibroblasts, which correlated with the tissue-specific expression of exon 3A in muscle versus exon 3B in fibroblasts. Both patients presented with lactic acidosis, hypertrophic cardiomyopathy, and muscular hypotonia, and died within the first year of life.

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

Last Updated: Oct 14, 2023