NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg) 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:: RCV000610224.1

Allele description [Variation Report for NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)]

NM_005932.4(MIPEP):c.1745T>G (p.Leu582Arg)

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.1745T>G (p.Leu582Arg)

HGVS:

NC_000013.11:g.23806053A>C
NG_052977.1:g.88396T>G
NM_005932.4:c.1745T>GMANE SELECT
NP_005923.3:p.Leu582Arg
NC_000013.10:g.24380192A>C
NM_005932.3:c.1745T>G

Protein change:

L582R; LEU582ARG

Links:

OMIM: 602241.0001; dbSNP: rs1057518739

NCBI 1000 Genomes Browser:

rs1057518739

Molecular consequence:

NM_005932.4:c.1745T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000223996	Baylor Genetics - MIPEP	criteria provided, single submitter (Eldomery et al. (Genome Med. 2016))	Uncertain significance (Jun 17, 2015)	paternal, unknown	clinical testing	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000223996

Baylor Genetics - MIPEP

criteria provided, single submitter

(Eldomery et al. (Genome Med. 2016))

Uncertain significance
(Jun 17, 2015)

paternal, unknown

clinical testing

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	unknown	no	1	not provided	not provided	1	not provided	clinical testing
Causasians,Hispanic Americans,American Indian or Alaska Native	paternal	yes	1	not provided	not provided	1	no	clinical 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, SCV000223996.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	clinical testing (GTR000508680.4)	PubMed (1)
2	Causasians,Hispanic Americans,American Indian or Alaska Native	1	not provided	no	clinical testing (GTR000508680.4)	PubMed (1)

Description

Possible pathogenicity based on finding it once in our laboratory in trans with another variant (c.212T>A; p.Leu71Gln) in a 10-month-old male with left ventricular noncompaction, global delays, hypotonia, hypertonia/spasticity, abnormal movements, dysmorphic features, short stature, microcephaly, failure to thrive

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	unknown	no	1	not provided	not provided	(GTR000508680.4)	1	not provided	not provided	not provided
2	paternal	yes	1	not provided	not provided	(GTR000508680.4)	1	not provided	not provided	See 2

Co-occurrences

#	Zygosity	Alleles	Number of Observations
2		NM_005932:c.212T>A (p.Leu71Gln)

Last Updated: Apr 23, 2022

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