NM_002437.5(MPV17):c.83G>T (p.Gly28Val) AND Charcot-Marie-Tooth disease, axonal, type 2EE

Germline classification:: Uncertain significance (1 submission)
Last evaluated:: Apr 12, 2022
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:: RCV002305691.1

Allele description [Variation Report for NM_002437.5(MPV17):c.83G>T (p.Gly28Val)]

NM_002437.5(MPV17):c.83G>T (p.Gly28Val)

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.83G>T (p.Gly28Val)

HGVS:

NC_000002.12:g.27313097C>A
NG_008075.1:g.14468G>T
NG_008075.2:g.15000G>T
NG_033055.1:g.167G>T
NG_033055.2:g.348G>T
NM_002437.5:c.83G>TMANE SELECT
NP_002428.1:p.Gly28Val
NC_000002.11:g.27535964C>A

Protein change:

G28V

Molecular consequence:

NM_002437.5:c.83G>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease, axonal, type 2EE
Synonyms:: CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 2EE
Identifiers:: MONDO: MONDO:0032728; MedGen: C5193076; OMIM: 618400

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV002599104	Institute of Human Genetics, University of Ulm	no assertion criteria provided	Uncertain significance (Apr 12, 2022)	germline	research

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV002599104

Institute of Human Genetics, University of Ulm

no assertion criteria provided

Uncertain significance
(Apr 12, 2022)

germline

research

Help

Summary from all submissions

Ethnicity	Origin	Affected	Individuals	Families	Chromosomes tested	Number Tested	Family history	Method
Pakhtun	germline	yes	1	not provided	not provided	not provided	not provided	research

Details of each submission

From Institute of Human Genetics, University of Ulm, SCV002599104.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	Pakhtun	1	not provided	not provided	research	not provided

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

Last Updated: Nov 19, 2022

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