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

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Jun 17, 2015
Review status:
1 star out of maximum of 4 stars
criteria provided, single submitter
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:
RCV000616524.1

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]
Observations:
1

Condition(s)

Name:
Cardiomyopathy (CMYO)
Synonyms:
Cardiomyopathies
Identifiers:
MONDO: MONDO:0004994; MedGen: C0878544; Human Phenotype Ontology: HP:0001638
Name:
Left ventricular noncompaction
Identifiers:
MONDO: MONDO:0018901; MedGen: C1960469; OMIM: PS604169; Human Phenotype Ontology: HP:0030682
Name:
Infantile muscular hypotonia
Identifiers:
MedGen: C1860834; Human Phenotype Ontology: HP:0008947

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000224000Baylor Genetics - MIPEP
criteria provided, single submitter

(Eldomery et al. (Genome Med. 2016))		Uncertain significance
(Jun 17, 2015) 		maternalclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedmaternalyes11not providednot providednot providedclinical testing

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 Baylor Genetics - MIPEP, SCV000224000.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedclinical testing
(GTR000508680.4)		 PubMed (1)

Description

Possible pathogenicity based on finding it once in our laboratory homozygous in a 10-month-old male with global delays, hypotonia, mild opisthotonus, slightly dysmorphic, acquired microcephaly, failure to thrive, vision loss, small ASD secundum with left to right shunt and moderate left ventricular hypertrophy without left ventricular outflow obstruction.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1maternalyesnot providednot providednot provided
(GTR000508680.4)		1not provided1not provided

Last Updated: Apr 23, 2022