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NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) AND Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Germline classification:
Pathogenic (2 submissions)
Last evaluated:
Jul 10, 2014
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:
RCV000017545.36

Allele description [Variation Report for NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)]

NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)

Gene:
MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
2p23.3
Genomic location:
Preferred name:
NM_002437.5(MPV17):c.148C>T (p.Arg50Trp)
HGVS:
  • NC_000002.12:g.27313032G>A
  • NG_008075.1:g.14533C>T
  • NG_033055.1:g.232C>T
  • NM_002437.5:c.148C>TMANE SELECT
  • NP_002428.1:p.Arg50Trp
  • NC_000002.11:g.27535899G>A
  • NM_002437.4:c.148C>T
  • P39210:p.Arg50Trp
Protein change:
R50W; ARG50TRP
Links:
UniProtKB: P39210#VAR_026218; OMIM: 137960.0003; dbSNP: rs121909723
NCBI 1000 Genomes Browser:
rs121909723
Molecular consequence:
  • NM_002437.5:c.148C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:
Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)
Synonyms:
Navajo neurohepatopathy; Navajo neuropathy; Mitochondrial DNA depletion syndrome type 6
Identifiers:
MONDO: MONDO:0009747; MedGen: C1850406; Orphanet: 255229; OMIM: 256810

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000037817OMIM
no assertion criteria provided
Pathogenic
(May 1, 2006) 		germlineliterature only

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

SCV000987043Yale Center for Mendelian Genomics, Yale University
no assertion criteria provided
Pathogenic
(Jul 10, 2014) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only
not providedgermlineyes1not providednot providednot providednot providedliterature only

Citations

PubMed

MPV17 encodes an inner mitochondrial membrane protein and is mutated in infantile hepatic mitochondrial DNA depletion.

Spinazzola A, Viscomi C, Fernandez-Vizarra E, Carrara F, D'Adamo P, Calvo S, Marsano RM, Donnini C, Weiher H, Strisciuglio P, Parini R, Sarzi E, Chan A, DiMauro S, Rötig A, Gasparini P, Ferrero I, Mootha VK, Tiranti V, Zeviani M.

Nat Genet. 2006 May;38(5):570-5. Epub 2006 Apr 2.

PubMed [citation]
PMID:
16582910

Individual exome analysis in diagnosis and management of paediatric liver failure of indeterminate aetiology.

Vilarinho S, Choi M, Jain D, Malhotra A, Kulkarni S, Pashankar D, Phatak U, Patel M, Bale A, Mane S, Lifton RP, Mistry PK.

J Hepatol. 2014 Nov;61(5):1056-63. doi: 10.1016/j.jhep.2014.06.038. Epub 2014 Jul 10.

PubMed [citation]
PMID:
25016221
PMCID:
PMC4203706

Details of each submission

From OMIM, SCV000037817.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In a child with mtDNA depletion syndrome-6 (MTDPS6; 256810), manifest with hepatic and cerebral involvement, Spinazzola et al. (2006) found compound heterozygosity for 2 mutations in the MPV17 gene: a 148C-T transition in exon 2 of the MPV17 gene, resulting in an arg50-to-trp (R50W) substitution, and a 26-bp deletion (116-141del; 137960.0004).

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

From Yale Center for Mendelian Genomics, Yale University, SCV000987043.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not provided1not providednot providedliterature only PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Nov 10, 2024