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NM_000530.8(MPZ):c.276G>A (p.Val92=) AND Charcot-Marie-Tooth disease type 1B

Germline classification:
Pathogenic (1 submission)
Last evaluated:
Feb 1, 2010
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:
RCV000015264.27

Allele description [Variation Report for NM_000530.8(MPZ):c.276G>A (p.Val92=)]

NM_000530.8(MPZ):c.276G>A (p.Val92=)

Gene:
MPZ:myelin protein zero [Gene - OMIM - HGNC]
Variant type:
single nucleotide variant
Cytogenetic location:
1q23.3
Genomic location:
Preferred name:
NM_000530.8(MPZ):c.276G>A (p.Val92=)
Other names:
V102V
HGVS:
  • NC_000001.11:g.161306880C>T
  • NG_008055.1:g.8093G>A
  • NM_000530.8:c.276G>AMANE SELECT
  • NM_001315491.2:c.276G>A
  • NP_000521.2:p.Val92=
  • NP_001302420.1:p.Val92=
  • LRG_256t1:c.276G>A
  • LRG_256:g.8093G>A
  • NC_000001.10:g.161276670C>T
  • NM_000530.6:c.276G>A
Protein change:
VAL102VAL
Links:
OMIM: 159440.0035; dbSNP: rs1558154193
NCBI 1000 Genomes Browser:
rs1558154193
Molecular consequence:
  • NM_000530.8:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]
  • NM_001315491.2:c.276G>A - synonymous variant - [Sequence Ontology: SO:0001819]

Condition(s)

Name:
Charcot-Marie-Tooth disease type 1B
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:
MONDO: MONDO:0007307; MedGen: C0270912; Orphanet: 101082; OMIM: 118200

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Assertion and evidence details

Help
Submission AccessionSubmitterReview Status
(Assertion method)		Clinical Significance
(Last evaluated)		OriginMethodCitations
SCV000035523OMIM
no assertion criteria provided
Pathogenic
(Feb 1, 2010) 		germlineliterature only

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

Help

Summary from all submissions

EthnicityOriginAffectedIndividualsFamiliesChromosomes testedNumber TestedFamily historyMethod
not providedgermlinenot providednot providednot providednot providednot providednot providedliterature only

Citations

PubMed

U1 snRNA mis-binding: a new cause of CMT1B.

Crehalet H, Latour P, Bonnet V, Attarian S, Labauge P, Bonello N, Bernard R, Millat G, Rousson R, Bozon D.

Neurogenetics. 2010 Feb;11(1):13-9. doi: 10.1007/s10048-009-0199-8. Epub 2009 May 28.

PubMed [citation]
PMID:
19475438

Details of each submission

From OMIM, SCV000035523.3

#EthnicityIndividualsChromosomes TestedFamily HistoryMethodCitations
1not providednot providednot providednot providedliterature only PubMed (1)

Description

In 4 affected members of a family with Charcot-Marie-Tooth disease type 1B (CMT1B; 118200), Crehalet et al. (2010) identified a heterozygous 306G-A transition in exon 3 of the MPZ gene, resulting in a synonymous val102-to-val (V102V) change. In silico analysis predicted that the G-to-A transition would result in increased strength of a cryptic donor splice site, and in vitro cellular studies showed that the 306A variant resulted in a truncated protein. The variant created a sequence that better matched the binding domain for U1 snRNA (RNU1A; 180680), which is required for correct splicing. The phenotype was an adult-onset neuropathy with moderately decreased NCVs, consistent with haploinsufficiency. The findings were important in demonstrating that so-called 'silent' mutations may be disease-causing.

#SampleMethodObservation
OriginAffectedNumber testedTissuePurposeMethodIndividualsAllele frequencyFamiliesCo-occurrences
1germlinenot providednot providednot providednot providednot providednot providednot providednot provided

Last Updated: Sep 29, 2024