NM_002437.5(MPV17):c.122_147del (p.Arg41fs) AND Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 1, 2006
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:: RCV000017546.29

Allele description [Variation Report for NM_002437.5(MPV17):c.122_147del (p.Arg41fs)]

NM_002437.5(MPV17):c.122_147del (p.Arg41fs)

Gene:

MPV17:mitochondrial inner membrane protein MPV17 [Gene - OMIM - HGNC]

Variant type:

Deletion

Cytogenetic location:

2p23.3

Genomic location:

Preferred name:

NM_002437.5(MPV17):c.122_147del (p.Arg41fs)

HGVS:

NC_000002.12:g.27313040_27313065del
NG_008075.2:g.15039_15064del
NG_033055.2:g.387_412del
NM_002437.5:c.122_147delMANE SELECT
NP_002428.1:p.Arg41fs
NC_000002.11:g.27535907_27535932del
NG_008075.1:g.14501_14526del
NG_008075.1:g.14507_14532del
NG_033055.1:g.206_231del
NM_002437.4:c.116_141del
NM_002437.5:c.116_141delMANE SELECT

Protein change:

R41fs

Links:

OMIM: 137960.0004; dbSNP: rs397507438

NCBI 1000 Genomes Browser:

rs397507438

Molecular consequence:

NM_002437.5:c.122_147del - frameshift variant - [Sequence Ontology: SO:0001589]

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
SCV000037818	OMIM	no assertion criteria provided	Pathogenic (May 1, 2006)	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

SCV000037818

OMIM

no assertion criteria provided

Pathogenic
(May 1, 2006)

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

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

Details of each submission

From OMIM, SCV000037818.3

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

Description

For discussion of the 26-bp deletion in the MPV17 gene (116-141del) that was found in compound heterozygous state in a patient with mtDNA depletion syndrome-6 (MTDPS6; 256810) by Spinazzola et al. (2006), see 137960.0003.

#	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

Last Updated: Jun 17, 2023

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