NM_002437.5(MPV17):c.148C>T (p.Arg50Trp) AND Mitochondrial DNA depletion syndrome 15 (hepatocerebral type)

Germline classification:: Pathogenic (1 submission)
Last evaluated:: May 20, 2021
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:: RCV003227464.8

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 15 (hepatocerebral type) (MTDPS15)
Synonyms:: Hepatocerebral Mitochondrial DNA Depletion Syndrome
Identifiers:: MONDO: MONDO:0014943; MedGen: C4310690; OMIM: 617156

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002076543	Natera, Inc.	no assertion criteria provided	Pathogenic (May 20, 2021)	germline	clinical testing

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002076543

Natera, Inc.

no assertion criteria provided

Pathogenic
(May 20, 2021)

germline

clinical testing

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
not provided	germline	unknown	not provided	not provided	not provided	not provided	not provided	clinical testing

Details of each submission

From Natera, Inc., SCV002076543.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	not provided

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

Last Updated: Nov 3, 2024

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