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NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del) AND Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Germline classification:
Uncertain significance (1 submission)
Last evaluated:
Aug 13, 2019
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:
RCV000031906.4

Allele description [Variation Report for NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del)]

NM_002437.5(MPV17):c.234_242del (p.Gly79_Thr81del)

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.234_242del (p.Gly79_Thr81del)
HGVS:
  • NC_000002.12:g.27312718_27312726del
  • NG_008075.1:g.14840_14848del
  • NG_033055.1:g.539_547del
  • NM_002437.5:c.234_242delMANE SELECT
  • NP_002428.1:p.Gly79_Thr81del
  • NC_000002.11:g.27535585_27535593del
Links:
dbSNP: rs267607262
NCBI 1000 Genomes Browser:
rs267607262
Molecular consequence:
  • NM_002437.5:c.234_242del - inframe_deletion - [Sequence Ontology: SO:0001822]

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
SCV000998873SIB Swiss Institute of Bioinformatics
criteria provided, single submitter

(ACMG Guidelines, 2015)		Uncertain significance
(Aug 13, 2019) 		unknowncuration

PubMed (2)
[See all records that cite these PMIDs]

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedunknownunknownnot providednot providednot providednot providednot providedcuration

Citations

PubMed

Mutations in the MPV17 gene are responsible for rapidly progressive liver failure in infancy.

Wong LJ, Brunetti-Pierri N, Zhang Q, Yazigi N, Bove KE, Dahms BB, Puchowicz MA, Gonzalez-Gomez I, Schmitt ES, Truong CK, Hoppel CL, Chou PC, Wang J, Baldwin EE, Adams D, Leslie N, Boles RG, Kerr DS, Craigen WJ.

Hepatology. 2007 Oct;46(4):1218-27. Erratum in: Hepatology. 2008 Feb;47(2):768.

PubMed [citation]
PMID:
17694548

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 SIB Swiss Institute of Bioinformatics, SCV000998873.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedcuration PubMed (2)

Description

This variant is interpreted as a variant of uncertain significance for Mitochondrial DNA depletion syndrome 6, autosomal recessive. The following ACMG Tag(s) were applied: PM2, PM3.

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

Last Updated: Dec 24, 2023