NM_000530.7(MPZ):c.292C>T (p.Arg98Cys) AND Charcot-Marie-Tooth disease, demyelinating, type 1b

This record was updated by the submitter. Please see the current version.

Germline classification:: Pathogenic (2 submissions)
Last evaluated:: Nov 6, 2013
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:: RCV000015238.26

Allele description

NM_000530.7(MPZ):c.292C>T (p.Arg98Cys)

Gene:

MPZ:myelin protein zero [Gene - OMIM - HGNC]

Variant type:

single nucleotide variant

Cytogenetic location:

1q23.3

Genomic location:

Preferred name:

NM_000530.7(MPZ):c.292C>T (p.Arg98Cys)

HGVS:

NC_000001.11:g.161306864G>A
NG_008055.1:g.8109C>T
NM_000530.7:c.292C>T
NP_000521.2:p.Arg98Cys
LRG_256t1:c.292C>T
LRG_256:g.8109C>T
LRG_256p1:p.Arg98Cys
NC_000001.10:g.161276654G>A
NM_000530.6:c.292C>T
P25189:p.Arg98Cys

Protein change:

R98C; ARG98CYS

Links:

UniProtKB: P25189#VAR_004518; OMIM: 159440.0010; dbSNP: rs121913590

NCBI 1000 Genomes Browser:

rs121913590

Molecular consequence:

NM_000530.7:c.292C>T - missense variant - [Sequence Ontology: SO:0001583]

Condition(s)

Name:: Charcot-Marie-Tooth disease, demyelinating, type 1b (CMT1B)
Synonyms:: CHARCOT-MARIE-TOOTH DISEASE, AUTOSOMAL DOMINANT, WITH FOCALLY FOLDED MYELIN SHEATHS, TYPE 1B; CHARCOT-MARIE-TOOTH DISEASE, SLOW NERVE CONDUCTION TYPE, LINKED TO DUFFY; CHARCOT-MARIE-TOOTH NEUROPATHY, TYPE 1B; See all synonyms [MedGen]
Identifiers:: MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Submission Accession	Submitter	Review Status (Assertion method)	Clinical Significance (Last evaluated)	Origin	Method	Citations
SCV000035497	OMIM	no assertion criteria provided	Pathogenic (Mar 1, 1996)	germline	literature only	PubMed (1) [See all records that cite this PMID]
SCV000255799	Athena Diagnostics Inc	criteria provided, single submitter (Athena Diagnostics Criteria)	Pathogenic (Nov 6, 2013)	germline	clinical testing	PubMed (15) [See all records that cite these PMIDs] 8797476, 8816708, 9187667, 11438991, 12477701, 20461396, 21840889, 22689911, 17172621, 19293842, 23250879, 9168174, 10093067, 8644725, 26467025

Submission Accession

Submitter

Review Status
(Assertion method)

Clinical Significance
(Last evaluated)

Origin

Method

Citations

SCV000035497

OMIM

no assertion criteria provided

Pathogenic
(Mar 1, 1996)

germline

literature only

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

SCV000255799

Athena Diagnostics Inc

criteria provided, single submitter

(Athena Diagnostics Criteria)

Pathogenic
(Nov 6, 2013)

germline

clinical testing

PubMed (15)
[See all records that cite these PMIDs]

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
not provided	germline	not provided	not provided	not provided	not provided	not provided	not provided	literature only

Citations

PubMed

Two divergent types of nerve pathology in patients with different P0 mutations in Charcot-Marie-Tooth disease.

Gabreëls-Festen AA, Hoogendijk JE, Meijerink PH, Gabreëls FJ, Bolhuis PA, van Beersum S, Kulkens T, Nelis E, Jennekens FG, de Visser M, van Engelen BG, Van Broeckhoven C, Mariman EC.

Neurology. 1996 Sep;47(3):761-5.

PubMed [citation]

PMID:: 8797476

Clinical phenotypes of different MPZ (P0) mutations may include Charcot-Marie-Tooth type 1B, Dejerine-Sottas, and congenital hypomyelination.

Warner LE, Hilz MJ, Appel SH, Killian JM, Kolodry EH, Karpati G, Carpenter S, Watters GV, Wheeler C, Witt D, Bodell A, Nelis E, Van Broeckhoven C, Lupski JR.

Neuron. 1996 Sep;17(3):451-60.

PubMed [citation]

PMID:: 8816708

See all PubMed Citations (15)

Details of each submission

From OMIM, SCV000035497.1

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	literature only	PubMed (1)

Description

See 159440.0009 and Rouger et al. (1996).

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

From Athena Diagnostics Inc, SCV000255799.2

#	Ethnicity	Individuals	Chromosomes Tested	Family History	Method	Citations
1	not provided	not provided	not provided	not provided	clinical testing	PubMed (15)

#	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: Dec 27, 2017

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