NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu) AND Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Germline classification:: Pathogenic (1 submission)
Last evaluated:: Dec 1, 2016
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:: RCV000412622.1

Allele description [Variation Report for NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)]

NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)

Gene:

MIPEP:mitochondrial intermediate peptidase [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

13q12.12

Genomic location:

Preferred name:

NM_005932.4(MIPEP):c.1027A>G (p.Lys343Glu)

HGVS:

NC_000013.11:g.23862328T>C
NG_052977.1:g.32121A>G
NM_005932.4:c.1027A>GMANE SELECT
NP_005923.3:p.Lys343Glu
NC_000013.10:g.24436467T>C
NM_005932.3:c.1027A>G

Protein change:

K343E; LYS343GLU

Links:

OMIM: 602241.0005; dbSNP: rs1057518741

NCBI 1000 Genomes Browser:

rs1057518741

Molecular consequence:

NM_005932.4:c.1027A>G - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome
Synonyms:: Combined oxidative phosphorylation deficiency 31
Identifiers:: MONDO: MONDO:0014976; MedGen: C4310661; OMIM: 617228

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000490253	OMIM	no assertion criteria provided	Pathogenic (Dec 1, 2016)	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

SCV000490253

OMIM

no assertion criteria provided

Pathogenic
(Dec 1, 2016)

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

MIPEP recessive variants cause a syndrome of left ventricular non-compaction, hypotonia, and infantile death.

Eldomery MK, Akdemir ZC, Vögtle FN, Charng WL, Mulica P, Rosenfeld JA, Gambin T, Gu S, Burrage LC, Al Shamsi A, Penney S, Jhangiani SN, Zimmerman HH, Muzny DM, Wang X, Tang J, Medikonda R, Ramachandran PV, Wong LJ, Boerwinkle E, Gibbs RA, Eng CM, et al.

Genome Med. 2016 Nov 1;8(1):106.

PubMed [citation]

PMID:: 27799064
PMCID:: PMC5088683

Details of each submission

From OMIM, SCV000490253.1

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

Description

In a boy (patient 3), born of consanguineous Egyptian parents, with combined oxidative phosphorylation deficiency-31 (COXPD31; 617228), Eldomery et al. (2016) identified a homozygous c.1027A-G transition (c.1027A-G, NM_005932) in the MIPEP gene, resulting in a lys343-to-glu (K343E) substitution at a highly conserved residue. The mutation was found by whole-exome sequencing and confirmed by Sanger sequencing; segregation studies in the family were not possible due to lack of parental DNA. The mutation was not present in the 1000 Genomes Project, dbSNP, Exome Variant Server, or ExAC databases. In vitro functional expression assays using the yeast homolog Oct1 demonstrated that the K376E (human K343E) mutation resulted in a severe decrease of Oct1 protease activity with accumulation of non-processed Oct1 substrates, resulting in impaired viability under respiratory growth conditions.

#	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: Apr 23, 2022

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