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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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000037817	OMIM	no assertion criteria provided	Pathogenic (May 1, 2006)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000987043	Yale Center for Mendelian Genomics, Yale University	no assertion criteria provided	Pathogenic (Jul 10, 2014)	germline	literature only	PubMed (1) [See all records that cite this PMID]

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000037817

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2006)

germline

literature only

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

SCV000987043

Yale Center for Mendelian Genomics, Yale University

no assertion criteria provided

Pathogenic
(Jul 10, 2014)

germline

literature only

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	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only
not provided	germline	yes	1	not provided	not provided	not provided	not provided	literature 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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature 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).

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	not provided	not provided	not provided	not provided		not provided	not provided	not provided	not provided

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

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	1	not provided	not provided	literature only	PubMed (1)

#	Sample				Method		Observation
#	Origin	Affected	Number tested	Tissue	Purpose	Method	Individuals	Allele frequency	Families	Co-occurrences
1	germline	yes	not provided	not provided	not provided		1	not provided	not provided	not provided

Last Updated: Sep 29, 2024

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