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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:
1

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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Assertion and evidence details

Submission AccessionSubmitterReview Status
(Assertion method)
Clinical Significance
(Last evaluated)
OriginMethodCitations
SCV000837680Undiagnosed Diseases Network, NIH - Undiagnosed Diseases Network (NIH), UDN
criteria provided, single submitter

(ACMG Guidelines, 2015)
Uncertain significance
(Aug 14, 2017)
paternalclinical testing

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

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
Mexicanpaternalyes11not providednot providednot providedclinical 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

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1Mexican1not providednot providedclinical 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.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1paternalyesnot providednot providednot provided
(GTR000553916.1)
1not provided1not provided

Last Updated: Aug 15, 2022