NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp) AND Lethal left ventricular non-compaction-seizures-hypotonia-cataract-developmental delay syndrome

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Aug 14, 2017
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:: RCV000708563.2

Allele description [Variation Report for NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)]

NM_005932.4(MIPEP):c.485T>G (p.Leu162Trp)

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.485T>G (p.Leu162Trp)

HGVS:

NC_000013.11:g.23879322A>C
NG_052977.1:g.15127T>G
NM_005932.4:c.485T>GMANE SELECT
NP_005923.3:p.Leu162Trp
NC_000013.10:g.24453461A>C
NM_005932.2:c.485T>G
p.L162W

Protein change:

L162W

Links:

dbSNP: rs768628283

NCBI 1000 Genomes Browser:

rs768628283

Molecular consequence:

NM_005932.4:c.485T>G - missense variant - [Sequence Ontology: SO:0001583]

Observations:

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
SCV000837680	Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN	criteria provided, single submitter (ACMG Guidelines, 2015)	Uncertain significance (Aug 14, 2017)	paternal	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

SCV000837680

Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN

criteria provided, single submitter

(ACMG Guidelines, 2015)

Uncertain significance
(Aug 14, 2017)

paternal

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
Mexican	paternal	yes	1	1	not provided	not provided	not provided	clinical testing

Citations

PubMed

Standards and guidelines for the interpretation of sequence variants: a joint consensus recommendation of the American College of Medical Genetics and Genomics and the Association for Molecular Pathology.

Richards S, Aziz N, Bale S, Bick D, Das S, Gastier-Foster J, Grody WW, Hegde M, Lyon E, Spector E, Voelkerding K, Rehm HL; ACMG Laboratory Quality Assurance Committee..

Genet Med. 2015 May;17(5):405-24. doi: 10.1038/gim.2015.30. Epub 2015 Mar 5.

PubMed [citation]

PMID:: 25741868
PMCID:: PMC4544753

Details of each submission

From Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN, SCV000837680.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Mexican	1	not provided	not provided	clinical testing (GTR000553916.1)	PubMed (1)

Description

Our patient inherited a p.L162W variant from his father and a partial gene deletion of MIPEP (exons 7 and 8) from his mother.

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	paternal	yes	not provided	not provided	not provided	(GTR000553916.1)	1	not provided	1	not provided

Last Updated: Aug 15, 2022

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