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NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys) AND Mitochondrial DNA depletion syndrome 6 (hepatocerebral type)

Germline classification:
Likely pathogenic (1 submission)
Last evaluated:
Mar 1, 2024
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:
RCV003882754.1

Allele description [Variation Report for NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)]

NM_002437.5(MPV17):c.503A>G (p.Tyr168Cys)

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.503A>G (p.Tyr168Cys)
HGVS:
  • NC_000002.12:g.27309940T>C
  • NG_008075.1:g.17624A>G
  • NG_008075.2:g.18157A>G
  • NG_033055.1:g.3323A>G
  • NG_033055.2:g.3505A>G
  • NM_002437.5:c.503A>GMANE SELECT
  • NP_002428.1:p.Tyr168Cys
  • NC_000002.11:g.27532808T>C
  • NM_002437.4:c.503A>G
Protein change:
Y168C
Molecular consequence:
  • NM_002437.5:c.503A>G - missense variant - [Sequence Ontology: SO:0001583]
Observations:
1

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
SCV004697816Centre for Inherited Metabolic Diseases, Karolinska University Hospital
criteria provided, single submitter

(ACMG Guidelines, 2015)		Likely pathogenic
(Mar 1, 2024) 		de novoclinical testing

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedde novoyes1not providednot providednot providednot providedclinical testing

Citations

PubMed

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 Centre for Inherited Metabolic Diseases, Karolinska University Hospital, SCV004697816.1

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
11not providednot providedclinical testing PubMed (1)
#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1de novoyesnot providednot providednot provided1not providednot providednot provided

Last Updated: Mar 10, 2024