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NM_002437.5(MPV17):c.156G>A (p.Leu52=) AND Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Germline classification:
Likely benign (1 submission)
Last evaluated:
Sep 16, 2020
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:
RCV001276352.1

Allele description [Variation Report for NM_002437.5(MPV17):c.156G>A (p.Leu52=)]

NM_002437.5(MPV17):c.156G>A (p.Leu52=)

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.156G>A (p.Leu52=)
HGVS:
  • NC_000002.12:g.27313024C>T
  • NG_008075.1:g.14541G>A
  • NG_033055.1:g.240G>A
  • NM_002437.5:c.156G>AMANE SELECT
  • NP_002428.1:p.Leu52=
  • NC_000002.11:g.27535891C>T
  • NM_002437.4:c.156G>A
Links:
dbSNP: rs142493907
NCBI 1000 Genomes Browser:
rs142493907
Molecular consequence:
  • NM_002437.5:c.156G>A - synonymous variant - [Sequence Ontology: SO:0001819]

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
SCV001462528Natera, Inc.
no assertion criteria provided
Likely benign
(Sep 16, 2020) 		germlineclinical testing

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlineunknownnot providednot providednot providednot providednot providedclinical testing

Details of each submission

From Natera, Inc., SCV001462528.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedclinical testingnot provided
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlineunknownnot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024